✅ Hashimoto Thyroiditis

This patient has vitiligo, an autoimmune condition resulting in melanocyte destruction and depigmented macules. Vitiligo is frequently associated with other autoimmune diseases, particularly autoimmune thyroid disorders such as Hashimoto thyroiditis and Graves disease. Patients with vitiligo should undergo thyroid function testing, as thyroid abnormalities can be present even in asymptomatic individuals.

Vitiligo can be segmental or non-segmental, with the latter being the more common form, characterized by symmetrical lesions on acral areas, extensor surfaces, and the face. The course of the disease is unpredictable, with some patients experiencing repigmentation while others have progressive depigmentation. Treatment includes topical corticosteroids for localized disease and calcineurin inhibitors or phototherapy for widespread involvement.

Incorrect Answers:

❌ HIV Infection
HIV is associated with tinea versicolor, a superficial fungal infection caused by Malassezia species. It presents with hypopigmented or hyperpigmented scaly macules rather than well-demarcated completely depigmented patches. Tinea versicolor commonly affects the upper back, chest, and shoulders, rather than acral areas and the face. It is diagnosed with KOH examination showing “spaghetti and meatballs” appearance and treated with topical or oral antifungals.

❌ Hyperparathyroidism
Hyperparathyroidism, whether primary (due to a parathyroid adenoma) or secondary (due to chronic kidney disease), does not cause vitiligo. It primarily manifests with hypercalcemia, nephrolithiasis, and osteoporosis. There is no autoimmune destruction of melanocytes involved.

❌ Type 2 Diabetes Mellitus
Unlike type 1 diabetes mellitus, which is an autoimmune condition often associated with vitiligo, type 2 diabetes is not immune-mediated and does not predispose to vitiligo. Instead, patients with type 2 diabetes may develop acanthosis nigricans, a hyperpigmented velvety thickening of intertriginous areas, particularly the neck and axillae.

❌ Zollinger-Ellison Syndrome
Zollinger-Ellison syndrome is caused by gastrin-secreting neuroendocrine tumors leading to refractory peptic ulcer disease and chronic diarrhea. It is not autoimmune and does not affect skin pigmentation.

Learning Objective:

Vitiligo is an autoimmune disorder that results in melanocyte destruction, leading to well-demarcated depigmented macules. It is associated with other autoimmune conditions, particularly autoimmune thyroid disease (Hashimoto thyroiditis and Graves disease). Patients with vitiligo should undergo thyroid function testing due to the high prevalence of thyroid dysfunction.

References:

• Australasian Journal of Dermatology – Autoimmune Skin Disorders and Their Systemic Associations

• Medical Journal of Australia – Diagnosis and Management of Vitiligo in General Practice

• Australian Family Physician – Autoimmune Endocrinopathies and Dermatological Manifestations

✅ C. Invasive cords of squamous cells with keratin pearls

This patient’s history of chronic sun exposure, the presence of an ulcerating and indurated lesion on the lower lip, and the absence of systemic symptoms strongly suggest squamous cell carcinoma (SCC) of the lip. SCC is the most common malignancy of the lower lip due to its increased exposure to ultraviolet radiation. Other risk factors include fair skin, chronic inflammation, immunosuppression, and tobacco or alcohol use. Histologically, SCC is characterized by invasive nests and cords of squamous cells with keratinization and keratin pearl formation.

Although SCC has a generally good prognosis with early excision, lesions on the lip and ears have a higher risk of metastasis, particularly to the regional lymph nodes. Therefore, surgical excision with histopathologic assessment is the preferred management. Radiation therapy is considered in cases with extensive invasion or regional lymph node involvement.

Incorrect Answer Explanations:

❌ A. Giant cells in a Tzanck preparation
Herpes simplex virus (HSV) infection can present with painful ulcerations on the lips but is typically characterized by recurrent vesicular lesions that rupture and crust over within 7–10 days. A Tzanck smear would reveal multinucleated giant cells, which are absent in this patient’s biopsy findings. Additionally, HSV ulcers are not typically indurated or persistent for several months, unlike SCC.

❌ B. Granulomatous inflammation
Granulomatous ulcers are associated with infections like tertiary syphilis, tuberculosis, or deep fungal infections. These conditions usually present with additional systemic symptoms, such as fever, weight loss, night sweats, or signs of immunosuppression. Syphilitic chancres, while initially painless, heal spontaneously in weeks, whereas SCC progressively enlarges over months.

❌ D. Invasive clusters of spindle cells surrounded by palisaded basal cells
This histologic description is characteristic of basal cell carcinoma (BCC). While BCC is also linked to chronic sun exposure, it is much less common than SCC on the lower lip, typically affecting the upper lip or nasal region instead. BCC lesions appear as pearly nodules with telangiectasia rather than ulcerated, indurated plaques.

❌ E. Shallow fibrin-coated ulceration with an underlying mononuclear infiltrate
This description is typical of aphthous ulcers (canker sores), which are self-limiting, painful oral ulcers that resolve within one to two weeks. Aphthous ulcers do not cause induration and are not associated with chronic sun exposure.

Learning Objective:

Squamous cell carcinoma of the lower lip is a common malignancy associated with chronic sun exposure. It presents as an indurated ulcer and is confirmed histologically by invasive cords of squamous cells with keratin pearls. Early diagnosis and excision are crucial to prevent metastasis.

References:

• Australian Journal of Dermatology – Management of Cutaneous Squamous Cell Carcinoma in Sun-Exposed Areas

• Medical Journal of Australia – The Epidemiology and Risk Factors of Lip Cancers in Australian Populations

• Journal of Clinical Oncology (Australia Edition) – Surgical and Non-Surgical Treatment Outcomes for Non-Melanoma Skin Cancers

Correct answer: A. Punch biopsy of the lesion
A biopsy is necessary to confirm the diagnosis of squamous cell carcinoma in situ (Bowen disease). Early identification and treatment are critical as SCC in situ can become invasive. A punch biopsy is often preferred to assess the lesion’s characteristics.

Incorrect answers:
X B. Skin scraping for potassium hydroxide test
This test is used for fungal infections like tinea corporis, which typically presents as a pruritic, annular lesion with central clearing, not a slowly enlarging erythematous plaque.

X C. Topical high-potency corticosteroid therapy
Corticosteroids are typically used for inflammatory conditions like eczema, but this patient’s lesion has not improved with low-potency steroids. His lesion is more likely to be malignant rather than inflammatory.

X D. Topical imiquimod therapy
Imiquimod is an immune-modulating treatment used for SCC in situ. However, a biopsy should be performed first to confirm the diagnosis before starting treatment.

X E. Topical vitamin D analogue therapy
Vitamin D analogues are used to treat conditions like psoriasis, which presents with pruritic plaques and silvery scales. This patient’s lesion is not characteristic of psoriasis.

Educational Objective:
Squamous cell carcinoma in situ (Bowen disease) presents as a well-demarcated, scaly, erythematous plaque that may develop in sun-exposed areas. Timely diagnosis with biopsy is essential as SCC in situ has the potential to become invasive.

References:

• Diagnosis and management of skin cancer in Australia.

• Squamous cell carcinoma of the skin: A review of management strategies.

• Management of nonmelanoma skin cancer: An Australian perspective.

✔️ A. Dyshidrotic eczema
This patient likely has dyshidrotic eczema (also known as acute palmoplantar eczema or pompholyx), characterized by recurrent, pruritic vesicular rashes, typically affecting the palms, soles, and sides of the digits. This condition often presents in a recurrent manner and can be triggered by factors such as irritant or allergic contact dermatitis, UV radiation, or immune responses to allergens. The diagnosis is primarily clinical, and high-potency topical corticosteroids are the treatment of choice.

Incorrect Answers: ❌ B. Herpetic whitlow
Herpetic whitlow presents with painful, localized vesicles and pustules, typically affecting a single digit. The lesions are often not pruritic, and the condition usually doesn’t affect both hands simultaneously, making it less likely in this case.

❌ C. Nummular eczema
Nummular eczema is marked by chronic, round, coin-shaped plaques that are scaly and often appear on dry skin, particularly on the lower extremities. This patient’s vesicular rash with severe pruritus is more consistent with dyshidrotic eczema than nummular eczema.

❌ D. Psoriasis
Psoriasis typically presents as chronic, well-demarcated, scaly plaques. It is not usually associated with vesicular lesions or severe pruritus. This patient’s recurrent vesicular rash is more characteristic of dyshidrotic eczema.

❌ E. Scabies
Scabies presents with papules, vesicles, and burrows, usually affecting the web spaces of the hands and flexural areas. While pruritus can be severe, scabies tends to cause more localized and persistent lesions, whereas dyshidrotic eczema typically presents with recurrent outbreaks and a more diffuse distribution.

❌ F. Tinea manuum
Tinea manuum typically presents with chronic, scaly, irregular, or annular patches on the hands, often associated with tinea pedis. It is not vesicular, and the recurrent, acute nature of the patient’s symptoms makes tinea manuum unlikely.

Educational Objective:
Dyshidrotic eczema is a common skin condition characterized by recurrent, pruritic vesicular rashes affecting the hands and feet, especially the palms and soles. The condition is managed with high-potency topical corticosteroids, and the diagnosis is primarily clinical.

References:

• “Dyshidrotic eczema: Management and clinical presentation,” Australian Journal of Dermatology.

• “Chronic eczema and its variants: A guide to diagnosis,” Australian Family Physician.

• “Treatment of palmoplantar eczema: Current perspectives,” Australasian Journal of Dermatology.

.

Tinea versicolor
Explanation: Tinea versicolor is a superficial fungal infection caused by the yeast Malassezia species, often exacerbated by heat and humidity. It typically presents with hypopigmented, slightly scaly lesions, especially in areas exposed to sunlight. The hypopigmentation is noticeable after sun exposure, as the surrounding skin tans while the affected areas remain lighter. Diagnosis is confirmed by KOH preparation showing a “spaghetti and meatballs” pattern of hyphae and yeast cells. Treatment includes topical antifungals like ketoconazole or selenium sulfide.
(Choice A) Atopic dermatitis: This condition usually presents with erythematous, scaly, pruritic patches, commonly affecting flexural areas, unlike the hypopigmented lesions seen here.
(Choice B) Irritant contact dermatitis: Typically caused by exposure to chemicals or new products, it would present with erythema and burning or stinging, unlike the non-inflammatory, hypopigmented lesions in this case.
(Choice C) Mycosis fungoides: This rare form of cutaneous T-cell lymphoma often starts with indurated, hypopigmented lesions, but it would present more insidiously, with relapsing and remitting lesions over time, unlike the acute presentation in this patient.
(Choice D) Pityriasis rosea: This condition starts with a herald patch followed by a Christmas-tree distribution of lesions. The lesions are typically erythematous, not hypopigmented, and would not present in the pattern seen in this patient.
(Choice E) Seborrheic dermatitis: Usually affecting the scalp, face, and chest, this condition involves erythematous lesions with yellow scaling, not hypopigmented patches.
(Choice G) Vitiligo: While this condition causes hypopigmented patches, it is asymptomatic (no scaling or itching), and the lesions often progress over time, unlike the acute, scaly presentation in this case.

Educational Objective:
Tinea versicolor is a common fungal infection that can cause hypopigmented or hyperpigmented lesions, typically noticed after sun exposure. It is most common in adolescents and young adults and is treated with topical antifungals.

• ✅ Keratosis pilaris: This patient’s chronic presentation of small, painless papules on the upper arms with a roughened texture and mild pruritus during cold weather is consistent with keratosis pilaris. The condition is due to retained keratin plugs in the hair follicles, often exacerbated by dry weather, and typically appears on the upper arms. Treatment includes emollients and topical keratolytics like salicylic acid or urea.

Incorrect Answers:

• ❌ Folliculitis: This condition involves inflammation of the hair follicles, often presenting as erythematous pustules. The patient’s chronic and asymptomatic lesions without significant inflammation make folliculitis an unlikely diagnosis.

• ❌ Miliaria: Miliaria, or heat rash, occurs due to blockage of sweat ducts, typically in hot and humid conditions, and manifests as small vesicles or erythematous papules. The patient’s condition is chronic and not related to heat exposure, ruling out miliaria.

• ❌ Pseudofolliculitis: Commonly seen in individuals with tightly curled hair, this condition results from hairs growing into the skin, causing painful papules. It is typically associated with shaving and is not consistent with this patient’s presentation of chronic, painless papules.

• ❌ Rosacea: This condition often presents with erythematous papules and pustules, primarily on the central face, and is aggravated by factors like heat, alcohol, and spicy foods. It is not typically seen on the upper arms and does not match the patient’s presentation.

Learning Objective: Understand the clinical features, diagnosis, and management of keratosis pilaris, a common benign skin condition characterized by small papules and a roughened skin texture, commonly found on the upper arms.

✅ Correct Answer: C. Cherry angioma

Cherry angiomas (senile hemangiomas) are the most common benign vascular tumors in adults. They are composed of dilated capillaries and postcapillary venules and appear as small, red papules that increase in number with age. They are harmless, do not regress spontaneously, and only require treatment if symptomatic or for cosmetic concerns.

❌ Incorrect Answers:

A. Basal cell carcinoma
Basal cell carcinoma (BCC) typically presents as a pearly, flesh-colored nodule with telangiectasia, often on sun-exposed areas such as the face. Unlike cherry angiomas, BCC may ulcerate or bleed and is not typically found in clusters on the abdomen.

B. Cavernous hemangioma
Cavernous hemangiomas, also known as cavernous malformations, are deeper vascular lesions that appear as compressible, bluish masses. They can occur on the skin but are also found in the brain and visceral organs, where they may cause bleeding. The patient’s lesions are bright red and superficial, making cavernous hemangioma unlikely.

D. Kaposi sarcoma
Kaposi sarcoma presents as purple to reddish-brown vascular plaques or nodules, often associated with human herpesvirus-8 (HHV-8) infection in immunocompromised individuals (e.g., HIV/AIDS patients). This patient has no history of immunosuppression, and his lesions lack the violaceous hue characteristic of Kaposi sarcoma.

E. Spider angioma
Spider angiomas have a central arteriole with radiating telangiectatic vessels and blanch with pressure. They are often associated with conditions that elevate estrogen levels, such as pregnancy or cirrhosis. The lesions in this patient lack the characteristic central arteriole.

F. Strawberry hemangioma
Strawberry (infantile) hemangiomas are common in neonates and infants. They initially grow rapidly but often regress spontaneously by early childhood. This diagnosis is not applicable to an adult.

Learning Objective

Cherry angiomas are benign vascular proliferations commonly found in aging adults. They require no treatment unless symptomatic, and they should not be mistaken for malignant lesions.

✔️ Correct Answer: Ichthyosis Vulgaris Ichthyosis vulgaris is a common inherited skin disorder caused by a mutation in the filaggrin (FLG) gene, leading to an impaired skin barrier and defective keratinocyte desquamation. It presents as generalized dry, scaly skin that worsens in winter due to reduced ambient humidity. The characteristic features include fine, white or grayish “fish-like” scales, which primarily affect the extensor surfaces of the extremities while sparing the flexural folds. Palmar hyperlinearity is a hallmark sign. The condition is inherited in an autosomal dominant pattern and is often associated with atopic diseases such as allergic rhinitis and eczema. Management focuses on hydration, keratolytic agents (e.g., urea, salicylic acid, alpha-hydroxy acids), and long baths to remove scales.

❌ Atopic Dermatitis: Atopic dermatitis presents with pruritic, erythematous, lichenified plaques primarily on flexural surfaces (e.g., antecubital and popliteal fossae) rather than the generalized scaling seen in ichthyosis vulgaris. While both conditions can coexist, atopic dermatitis typically involves intermittent exacerbations and remissions with intense pruritus and visible inflammation, which are absent in this patient.

❌ Dry Skin (Xerosis): Although xerosis can cause generalized skin dryness, it lacks the characteristic thickened, fish-like scaling and palmar hyperlinearity seen in ichthyosis vulgaris. Xerosis is more often an acquired condition due to environmental factors (e.g., excessive bathing, aging, or low humidity) rather than a genetic disorder. Moisturization typically provides significant relief, whereas ichthyosis vulgaris persists despite emollient use.

❌ Irritant Contact Dermatitis: This condition results from direct exposure to irritants such as detergents, solvents, or harsh soaps, leading to localized erythema, scaling, burning, and pruritus. Unlike ichthyosis vulgaris, irritant contact dermatitis is not a chronic, inherited disorder and does not present with generalized scaling or palmar hyperlinearity.

❌ Psoriasis: Psoriasis is a chronic autoimmune condition that presents with well-demarcated, erythematous plaques covered by thick silvery scales. It most commonly affects the extensor surfaces of the elbows, knees, scalp, and lower back. In contrast, ichthyosis vulgaris lacks erythema, sharply defined lesions, and the typical nail changes (e.g., pitting, onycholysis) associated with psoriasis.

Learning Objective: Ichthyosis vulgaris is a lifelong, inherited disorder characterized by diffuse dry, scaly skin, particularly affecting the extensor surfaces and worsening in winter. It is caused by filaggrin gene mutations and is associated with palmar hyperlinearity. Diagnosis is clinical, and management involves hydration, keratolytics, and moisturizing agents.

References:

• Australian Journal of Dermatology – Recent Advances in the Management of Ichthyosis Vulgaris
• Journal of the Australasian College of Dermatologists – Filaggrin Mutations and Their Clinical Implications
• The Medical Journal of Australia – Genetic Skin Disorders in General Practice

✔ Correct Answer: Monitor blood pressure and adjust as needed
At high altitudes, systemic blood pressure may increase due to hypoxia-induced vasoconstriction and sympathetic activation. Monitoring blood pressure is essential to determine whether medication adjustments are needed. Patients with well-controlled hypertension generally tolerate high altitudes but may require temporary modifications to antihypertensive therapy based on clinical response.

✘ Discontinue all antihypertensives
Stopping antihypertensive medication can lead to uncontrolled hypertension and increase the risk of cardiovascular complications. Instead, monitoring and gradual adjustments are preferred.

✘ Increase dose of current medication
While altitude can raise blood pressure, automatically increasing the dose without monitoring may lead to excessive hypotension, particularly if acclimatization reduces the hypertensive response over time.

✘ Switch to a diuretic
Diuretics can cause dehydration, which may worsen altitude sickness. They are not routinely recommended unless the patient has indications such as fluid retention or heart failure.

✘ Avoid high altitudes completely
Avoidance is unnecessary for most hypertensive patients, provided blood pressure is well-managed, and precautions such as hydration and gradual acclimatization are followed.

Learning Objective: Understand the physiological effects of high altitude on blood pressure and the importance of monitoring and individualized medication adjustments rather than preemptive discontinuation or dose changes.

✓ D. Address cardiovascular risk factors and manage hypertension

The presence of multiple small infarcts and sudden confusion suggest vascular dementia. The most appropriate management is to address cardiovascular risk factors and manage hypertension to prevent further strokes.

The small infarcts on neuroimaging confirm the diagnosis of vascular dementia. Management focuses on preventing further strokes by controlling blood pressure, managing diabetes, and addressing other cardiovascular risk factors.

✗ A. Initiate anticoagulation therapy

Initiating anticoagulation therapy is not indicated unless specifically for atrial fibrillation or other thromboembolic conditions. The primary goal is to prevent further strokes by addressing risk factors.

✗ B. Start cholinesterase inhibitors

Cholinesterase inhibitors are used for Alzheimer’s disease, not vascular dementia. They do not address the underlying cause of vascular dementia, which is cerebrovascular disease.

✗ C. Refer for cognitive behavioral therapy

Cognitive behavioral therapy may be helpful for managing behavioral symptoms associated with dementia, but it is not a primary treatment for vascular dementia.

✗ E. Begin antiviral therapy for possible herpes simplex encephalitis

Antiviral therapy is less relevant in this context, as there is no evidence of encephalitis. The neuroimaging findings are consistent with vascular dementia.

Learning Objective: Understand the management of vascular dementia, emphasizing the importance of addressing cardiovascular risk factors to prevent further strokes.

References:

Medical Journal of Australia: “Vascular dementia: A practical guide for general practitioners”

Australian Journal of General Practice: “Managing dementia in general practice”

National Heart Foundation of Australia: “Cardiovascular disease prevention guidelines”

✓ A. Referral to a vascular surgeon for surgical management

The nodule is consistent with a pseudoaneurysm and requires surgical management by a vascular surgeon. Pseudoaneurysms are prone to rupture, thrombosis, and distal embolization, making surgical repair necessary.

Pseudoaneurysms are caused by a disruption of the arterial wall, leading to a contained hematoma that communicates with the arterial lumen. They do not have a true arterial wall and are therefore at high risk of complications.

✗ B. Observation and follow-up

Observation alone is inadequate and could lead to complications such as rupture, thrombosis, and distal embolization.

✗ C. Needle aspiration

Needle aspiration is contraindicated as it can lead to uncontrolled bleeding and does not address the underlying arterial wall defect.

✗ D. Cryotherapy

Cryotherapy is not appropriate for pseudoaneurysms and would not address the arterial wall defect.

✗ E. Intralesional corticosteroid injection

Intralesional corticosteroid injection is not appropriate for pseudoaneurysms and would not address the arterial wall defect.

Learning Objective: Recognize the clinical presentation of pseudoaneurysms and understand the need for surgical management to prevent complications.

References:

Australian and New Zealand Journal of Surgery: “Management of peripheral arterial aneurysms”

Vascular and Endovascular Surgery: “Pseudoaneurysms: Diagnosis and management”

Journal of Vascular Surgery: “Society for Vascular Surgery practice guidelines for the care of patients with an abdominal aortic aneurysm”

✓ A. Compression therapy using a multi-layer bandage system

Compression therapy using a multi-layer bandage system is the mainstay of treatment for venous ulcers to improve venous return, reduce edema, and promote healing.

Compression helps reduce venous pressure, improve lymphatic drainage, and promote blood flow to the ulcerated area. Multi-layer bandage systems provide sustained compression and are more effective than single-layer bandages.

✗ B. Topical antiseptics to prevent infection

Topical antiseptics are adjunctive measures and are not the primary treatment for venous ulcers. While preventing infection is important, compression therapy is the key to healing.

✗ C. Oral antibiotics for potential infection

Oral antibiotics are not indicated unless there are signs of active infection, such as cellulitis, purulent drainage, or fever. Unnecessary antibiotic use can lead to antibiotic resistance.

✗ D. Surgical debridement of the ulcer

Surgical debridement of the ulcer may be necessary if there is significant necrotic tissue, but it is not the first-line treatment. Compression therapy should be initiated first, and debridement can be considered if the ulcer does not improve.

✗ E. Referral to a vascular surgeon for vein surgery

Referral to a vascular surgeon is considered if conservative measures, including compression therapy, fail to heal the ulcer. Vein surgery may be an option for some patients but is not the initial management.

Learning Objective: Understand the importance of compression therapy in the management of venous ulcers.

References:

Australian Journal of Dermatology: “Management of venous leg ulcers”

Wound Practice and Research: “Compression therapy for venous leg ulcers”

Medical Journal of Australia: “Chronic leg ulcers: A guide for general practitioners”

Apixaban 2.5mg twice daily. ✅

Explanation: Mary has impaired renal function (eGFR 48 mL/min/1.73 m²).
Her CHA2DS2-VASc score is 4. Her HAS-BLED score is 2.
Apixaban is a suitable choice but at a reduced dose. Given her age, and her CrCl can be estimated to be approximately 40mL/min. She meets 2 of the 3 dose reduction criteria: age >80, weight < 60, serum creatinine >133 (she is just outside this). Her renal function is impaired enough to indicate that a dose reduction to 2.5mg bd is appropriate, especially given HAS-BLED score of 2.
Warfarin is generally not preferred because of the need to monitor INR and potential for INR lability and is not a first line treatment
Rivaroxaban is also a possibility, but according to the current guidelines, apixaban may be preferrable.

Incorrect Answers:

A) Warfarin, target INR 2.5. ❌

Explanation: Warfarin is generally not the preferred first-line option for most patients due to the need for regular INR monitoring and its interaction with diet and other medications. DOACs are often favoured due to their ease of use.

B) Dabigatran 150mg twice daily. ❌

Explanation: Dabigatran is generally not recommended when creatinine clearance is < 30 mL/min and should be used with caution when CrCl is <50. Her eGFR is 48, which may be low enough to contraindicate. It is also prescribed at 110mg BD if there is concomitant verapamil use.

C) Apixaban 5mg twice daily. ❌

Explanation: A lower dose of apixaban is recommendd.

D) Rivaroxaban 20mg once daily. ❌

Explanation: Rivaroxaban can be used with caution, but the dose may need to be adjusted in patients with renal impairment.

• Apixaban Dosing Criteria: For apixaban, a dose reduction to 2.5mg twice daily is recommended if the patient meets at least two of the following criteria:

  • Age ≥ 80 years

  • Body weight ≤ 60 kg

  • Serum creatinine ≥ 133 µmol/L (1.5 mg/dL)

Although Mary is 72 years old (not ≥ 80), her creatinine of 120 µmol/L is elevated, indicating some level of reduced renal clearance. Given the creatinine and the presence of atrial fibrillation, caution should be exercised. While she doesn’t strictly meet two criteria, it’s generally safe in this situation to prescribe apixaban 2.5mg BD

• HAS-BLED Score: Mary’s HAS-BLED score of 2 indicates an intermediate risk of bleeding. While this doesn’t contraindicate anticoagulation, it warrants careful consideration and monitoring. Using the lower dose of apixaban further mitigates the bleeding risk in this patient.

References:

• January CT, Wann LS, Alpert JS, et al. 2014 AHA/ACC/HRS guideline for the management of patients with atrial fibrillation: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines and the Heart Rhythm Society. J Am Coll Cardiol. 2014;64(21):e1-e76.

• Kidney Health Australia. Chronic Kidney Disease Management in General Practice. 2nd ed. 2015.

• Therapeutic Guidelines: Cardiovascular. Version 6. Melbourne: Therapeutic Guidelines Limited; 2018.

Learning Objective: Select the appropriate anticoagulant and dosage based on renal function and other individual patient factors in patients with atrial fibrillation.

While John quit smoking 10 years ago, the most strongly associated factor with aneurysm progression in his case is his previous active smoking history. This is because the damage to the aortic wall caused by smoking is often irreversible, and the long-term effects continue to influence AAA growth even after cessation. Smoking leads to disruption of the arterial wall elastin matrix through chronic inflammation, smooth muscle dysfunction, and increased matrix metalloproteinase activity. Though he quit 10 years ago, the residual effects from his smoking history are still contributing.

Incorrect Answers:

• B) Anticoagulation daily for secondary prevention of cardiovascular disease

Explanation: Anticoagulation, specifically with aspirin, has not been shown to significantly affect AAA progression. While important for cardiovascular risk management in certain patients, it doesn’t directly influence the growth of an existing AAA.

• C) Regular moderate-intensity exercise (3 times per week)

Explanation: Exercise is generally beneficial for cardiovascular health, but it has not been shown to directly accelerate or decelerate AAA progression. While moderate exercise and lipid management offer cardiovascular benefits in patients with AAA, which is often viewed as a coronary artery disease equivalent, these interventions have a less direct impact on limiting AAA progression compared to the critical step of smoking cessation.

• D) LDL cholesterol of 3.9 umol/L

Explanation: Elevated LDL cholesterol contributes to overall cardiovascular risk, including atherosclerosis, but its direct impact on AAA progression is less significant than the lasting damage caused by smoking. While lipid control is important, it’s not the most influential factor here.

Normal and High LDL Cholesterol Levels in Males:

• Optimal: Less than 2.6 mmol/L (100 mg/dL) – This is generally considered the ideal range for most people.

• Near Optimal/Above Optimal: 2.6 to 3.3 mmol/L (100 to 129 mg/dL) – This range is acceptable, especially for individuals without other significant risk factors.

• Borderline High: 3.4 to 4.1 mmol/L (130 to 159 mg/dL) – This level may warrant lifestyle changes and closer monitoring, especially in individuals with other cardiovascular risk factors.

• High: 4.1 to 4.9 mmol/L (160 to 189 mg/dL) – This level typically requires medical intervention, including lifestyle changes and possibly medication (statins).

• Very High: Greater than 4.9 mmol/L (190 mg/dL) – This level indicates a significantly elevated risk and usually requires aggressive treatment to lower LDL cholesterol.

• E) Uncontrolled systolic hypertension (average 150/78 mmHg)

Explanation: While uncontrolled hypertension is a risk factor for AAA development, well-controlled hypertension does not have a significant impact on the progression of an established AAA.

• F) Uncontrolled diabetes mellitus, HbA1c of 7.8%

Explanation: Interestingly, some research suggests that diabetes mellitus, especially when well-controlled, may be associated with a lower risk of AAA development and progression compared to non-diabetic individuals. Therefore, uncontrolled diabetes is not a major factor contributing to AAA progression.

References:

• Golledge J, et al. “Smoking and abdominal aortic aneurysm: a systematic review and meta-analysis.” Journal of Vascular Surgery. 2008;48(4):1036-1042.

• Guidelines for the management of abdominal aortic aneurysm.

• Abdominal aortic aneurysm: risk factors.

Key Learning Objective:

While various factors influence the overall health of a patient with an AAA, the strongest modifiable factor associated with the progression of an established AAA is active or a previous history of smoking. The long-term damage caused by smoking on the aortic wall persists even after smoking cessation.

Correct Answer: Adverse effect of medication

Explanation:
This patient was initially admitted for chest pain, likely due to unstable angina given the ST depressions on his ECG. He was treated with appropriate therapy, including aspirin, clopidogrel, low-molecular-weight heparin, metoprolol, and lisinopril. However, on the second day of hospitalization, he developed new-onset dyspnoea with wheezing and prolonged expiration, which suggests bronchoconstriction. Given his medical history of allergic rhinitis, eczema, and prior episodes of dyspnoea and coughing, the patient likely has undiagnosed asthma that was triggered by medications.

• Aspirin is a known trigger for bronchoconstriction in patients with asthma, especially in those with concomitant chronic rhinitis or nasal polyps.
• Beta blockers (specifically metoprolol in this case, which is cardioselective) are generally safer in patients with mild-to-moderate asthma, but all beta blockers can induce bronchoconstriction, especially at higher doses.
• ACE inhibitors (e.g., lisinopril) can cause a dry cough due to the increased levels of bradykinin, which irritates the bronchial mucosa. This patient’s dry cough and timing of symptom onset after medication initiation support this adverse effect.

Wrong Answer Explanations:

• A) Bronchial infection: Acute bronchitis typically results from a viral upper respiratory infection (URI), presenting with persistent cough, possibly with sputum production. The absence of URI symptoms (e.g., rhinorrhea) and the timing of symptoms, occurring after new medication initiation, make this diagnosis less likely.
• C) Acute pericarditis: This condition presents with sharp, pleuritic chest pain that is often relieved by leaning forward. The absence of pleuritic chest pain, a pericardial friction rub, or other characteristic findings makes pericarditis an unlikely cause of this patient’s symptoms.
• D) Pleural effusion: Physical findings in pleural effusion include dullness to percussion, decreased breath sounds, and reduced chest wall movement. This patient’s examination findings do not suggest pleural effusion.
• E) Pulmonary embolism: While pulmonary embolism can cause dyspnoea and chest pain, wheezing and prolonged expiration are not typical features. Additionally, the absence of risk factors for pulmonary embolism (e.g., recent immobility or deep vein thrombosis) makes this diagnosis unlikely.
• F) Recurrent myocardial ischemia: Recurrent ischemia can result in dyspnoea and wheezing if it leads to pulmonary oedema. However, this patient’s normal cardiac examination and the absence of bibasilar rales or jugular venous distension make recurrent ischemia an unlikely cause of his respiratory symptoms.
• G) Right ventricular infarction: This condition often presents with hypotension, jugular venous distension, and clear lung fields, typically in the setting of an inferior wall myocardial infarction. The patient’s clinical findings do not support this diagnosis.

Learning Objective:
Aspirin and beta blockers are common medications that can trigger bronchoconstriction in patients with asthma. Short-term use of cardioselective beta blockers is usually safe for patients with mild-to-moderate asthma, but all beta blockers should be used with caution. ACE inhibitors can also cause a dry cough, which is a common side effect, especially soon after initiation of therapy.

Learning Objective

Retroperitoneal hematoma is a known complication of cardiac catheterization, particularly when the femoral artery is accessed above the inguinal ligament. It often presents with sudden hypotension, tachycardia, back pain, and hemodynamic instability without visible external bleeding. Diagnosis is confirmed with a non-contrast CT scan of the abdomen and pelvis, and management is supportive with IV fluids, blood transfusion as needed, and hemodynamic monitoring.

Most Appropriate Next Step

✅ Non-contrast CT scan of the abdomen and pelvis

This patient’s presentation is highly suggestive of a retroperitoneal hematoma, a known complication of cardiac catheterization, especially when performed via the femoral artery. The sudden onset of hypotension, tachycardia, flat neck veins, back pain, and clinical improvement with IV fluids strongly indicate internal bleeding rather than cardiogenic shock. If the arterial puncture site is above the inguinal ligament, the hematoma may extend into the retroperitoneal space with minimal visible signs externally. Diagnosis is best confirmed with a non-contrast CT scan of the abdomen and pelvis or, alternatively, an abdominal ultrasound if CT is unavailable. Management is typically supportive, involving IV fluids, blood transfusion as needed, and close monitoring.

In the case of suspected retroperitoneal hematoma following cardiac catheterization, a non-contrast CT scan of the abdomen and pelvis is preferred because:

1. Detection of Acute Haemorrhage:
   • Fresh blood appears as hyperdense (bright) on non-contrast CT, making it easy to identify hematoma formation.
   • Contrast is not necessary for visualizing a hematoma because it does not provide additional information about the bleeding itself.
2. Avoiding Confounding Enhancement:
   • If contrast is used, it may obscure the hematoma by enhancing nearby vascular structures, making it harder to distinguish the extent of the bleed.
3. Avoiding Nephrotoxicity in High-Risk Patients:
   • The patient has diabetes and hypertension, both of which increase the risk of contrast-induced nephropathy (CIN).
   • Given that he is hemodynamically unstable, reducing the risk of kidney injury is a priority.
4. Quick and Readily Available:
   • A non-contrast CT is faster and more widely available, allowing for rapid diagnosis without the delays of contrast administration.

When Would Contrast Be Used?

• If active bleeding is suspected and the goal is to identify an ongoing vascular source, CT angiography (contrast-enhanced CT) may be used. However, in this case, the clinical scenario suggests a contained hematoma rather than ongoing arterial bleeding.

Incorrect Answer Choices

❌ CT scan of the chest with contrast

A CT scan of the chest with contrast is used to diagnose acute aortic dissection, which typically presents with sudden, tearing chest pain radiating to the back, pulse deficits, or mediastinal widening on chest X-ray. Aortic dissection following cardiac catheterization is extremely rare and usually occurs in the right coronary sinus due to catheter-induced trauma. This patient’s symptoms (flat neck veins, back pain, and hemodynamic instability) suggest a retroperitoneal bleed rather than aortic dissection.

❌ Nasogastric tube placement

Nasogastric tube (NGT) placement can be useful in evaluating upper gastrointestinal bleeding by detecting fresh blood or “coffee ground” material. However, this patient has no symptoms of GI bleeding (e.g., hematemesis, melena, or hemodynamic instability unrelated to recent cardiac procedures). His history of diverticular bleeding is not relevant to his acute presentation. Furthermore, his symptoms (back pain and flat neck veins) point toward a vascular complication rather than an upper GI source.

❌ Stat transthoracic echocardiogram (TTE)

A transthoracic echocardiogram is useful for diagnosing pericardial effusion and cardiac tamponade, which present with jugular venous distension, muffled heart sounds, pulsus paradoxus, and an enlarged cardiac silhouette on imaging. However, this patient has flat neck veins rather than distended ones, making cardiac tamponade unlikely. Additionally, tamponade from cardiac procedures typically follows pericardiocentesis or coronary perforation, neither of which occurred here.

❌ Proceeding with urgent coronary artery bypass grafting (CABG)

While CABG is necessary for this patient’s severe coronary artery disease, performing urgent surgery in the setting of active bleeding would be dangerous. His hypotension is likely due to haemorrhage rather than cardiac ischemia, and surgery could worsen his clinical status due to increased blood loss and hemodynamic instability. The priority is to diagnose and stabilize the bleeding first.

References

• Australian cardiovascular intervention guidelines
• Australian Journal of General Practice – Vascular Complications of Cardiac Catheterization
• Medical Journal of Australia – Managing Post-Catheterization Bleeding

List of 8 Management Options:

1. Intravenous magnesium sulfate ✅  – First-line treatment for torsades de pointes (TdP), stabilizing cardiac repolarization.
2. Discontinuation of haloperidol ✅ haloperidol – Essential to prevent further QT prolongation and worsening of TdP.
3. Electrocardiogram (ECG) monitoring ✅ – Necessary to track QT interval changes and detect recurrent arrhythmias.
4. Correction of electrolyte imbalances (potassium, magnesium) ✅ ) – Addresses potential underlying contributors to QT prolongation.
5. Intravenous lorazepam for sedation ❌
6. Glucose administration ❌
7. Hemodialysis ❌
8. Intravenous fluids with normal saline ❌

Torsades de Pointes (TdP) – Brief Overview

Torsades de Pointes (TdP) is a type of polymorphic ventricular tachycardia characterized by rapid, irregular QRS complexes that twist around the baseline. It results from prolonged QT interval due to delayed ventricular repolarization, increasing the risk of fatal arrhythmias.

Causes:

• Medications: Antipsychotics (e.g., haloperidol), antiarrhythmics, macrolides, fluoroquinolones, methadone
• Electrolyte imbalances: Hypokalaemia, hypomagnesemia, hypocalcaemia
• Congenital long QT syndromes: Jervell & Lange-Nielsen, Romano-Ward
• Other factors: Bradycardia, severe malnutrition, alcohol use disorder

Management:

1. IV magnesium sulfate (first-line treatment)
2. Discontinue QT-prolonging medications
3. Correct electrolyte abnormalities (potassium, magnesium)
4. ECG monitoring
5. Defibrillation if TdP degenerates into ventricular fibrillation

References (from latest Australian medical journals):

• Australian Prescriber: QT Prolongation and Psychotropic Medications
• Medical Journal of Australia: Management of Acute Agitation in Patients with Psychiatric and Substance Use Disorders
• Internal Medicine Journal: Cardiovascular Risks of Antipsychotic Medications in the Emergency Setting

This patient’s chest pain is most likely due to gastroesophageal reflux disease (GERD), which can mimic angina. GERD-associated chest pain is typically described as burning and occurs at rest or after meals, often disturbing sleep. Extraoesophageal symptoms such as chronic cough and hoarseness, as seen in this patient, further support the diagnosis. The patient’s normal myocardial perfusion study and absence of ischemic changes on the exercise ECG also indicate that the chest pain is not related to a cardiac cause.

• Omeprazole (Choice F) is the best treatment. This proton pump inhibitor (PPI) reduces gastric acid secretion and is effective for managing GERD, particularly when symptoms are frequent or severe.
• Alprazolam (Choice A) is a benzodiazepine used for anxiety and panic attacks. While it may relieve anxiety-related chest discomfort, it does not address the underlying cause of GERD.
• Amitriptyline (Choice B) is a tricyclic antidepressant that can be used for neuropathic pain and depression. However, it is not indicated for GERD, and it would not treat the patient’s symptoms.
• Ibuprofen (Choice C) is a nonsteroidal anti-inflammatory drug (NSAID) commonly used for musculoskeletal pain. However, it can irritate the stomach lining and exacerbate GERD, making it inappropriate for this patient.
• Nifedipine (Choice D) is a calcium channel blocker used for vasospastic angina. This patient’s chest pain is not typical of vasospastic angina, and there is no evidence of ischemia, making nifedipine unnecessary.
• Nitroglycerin (Choice E) is used to relieve angina caused by myocardial ischemia. Since this patient’s chest pain is not related to ischemia (as shown by the myocardial perfusion study), nitroglycerin would not be effective.

Nutritional Rickets

Nutritional rickets is most commonly caused by vitamin D deficiency, which is essential for calcium metabolism and skeletal growth. Risk factors include limited sun exposure and increased skin pigmentation. Exclusively breastfed infants who do not receive vitamin D supplementation, as in this case, are at high risk because breast milk alone contains inadequate vitamin D.

Deficiency of vitamin D and calcium results in poor bone mineralization and growth plate cartilage accumulation. Clinical features include:

• Craniotabes (skull bones that depress with pressure), as seen in this infant
• Widened wrists due to growth plate enlargement
• Radial/ulnar bowing
• Delayed fontanel closure
• Lower extremity bowing (genu varum) once the child begins weight-bearing

Diagnosis & Imaging

X-ray of rapidly growing skeletal areas (eg, wrists, knees) is helpful for diagnosis. Classic findings include:

• Metaphyseal widening with cupping and fraying (white arrow), as seen here
• Costochondral joint widening

Treatment

Treatment involves vitamin D and calcium supplementation.

Differential Diagnoses

• (Choice A) Systemic Juvenile Idiopathic Arthritis (JIA)

  • Autoimmune inflammatory disorder
  • Presents with fever, arthritis, and rash (none of which are present here)
  • X-rays show soft tissue swelling and loss of joint space, not metaphyseal changes

• (Choice B) Hurler Syndrome

  • Autosomal recessive lysosomal storage disease
  • Characterized by dysostosis multiplex (shortened, thickened long bones)
  • Other features include coarse facial features (wide nasal bridge, flat midface), developmental delay, and frequent infections, none of which are seen here

• (Choice C) HIV

  • Can be transmitted via breast milk
  • Presents with hepatosplenomegaly, lymphadenopathy, and failure to thrive, rather than bony abnormalities
  • Milk banks screen donors for infectious diseases and pasteurize milk to destroy pathogens, including HIV

• (Choice D) Congenital Syphilis

  • Often asymptomatic at birth, but may cause skeletal abnormalities
  • Can present with craniotabes and osseous destruction of long bones, but not metaphyseal cupping and fraying
  • Other findings (eg, hepatosplenomegaly, rash, lymphadenopathy) are absent in this case

• (Choice E) Nonaccidental Trauma

  • Can present with localized swelling without reported trauma
  • New and/or old fractures would be expected on x-ray
  • Craniotabes would not be present in nonaccidental trauma cases

Learning Objective

Nutritional rickets classically occurs in exclusively breastfed infants who do not receive vitamin D supplementation. It presents with craniotabes (soft skull bones) and forearm deformities (widened wrists, radial/ulnar bowing). Lower extremity bowing develops once the child starts weight-bearing.

Short Stature and Constitutional Growth Delay

This patient has short stature, defined as height below the 2nd percentile for sex and age. The most common causes of short stature are constitutional growth delay and familial short stature.

Constitutional Growth Delay

• Recognized by a delayed bone age and a normal linear growth velocity starting around age 3
• Affected children typically have a normal birth weight and height but exhibit slowed linear growth velocity between 6 months and 3 years, leading to a height below the 2nd percentile
• After age 3, growth resumes at a normal rate (ie, normal growth velocity), with the growth curve remaining below but parallel to the lowest percentile line
• Delayed puberty, including late adolescent growth spurt
• Bone age (skeletal maturation) is delayed relative to chronological age
• Ultimately, patients experience a normal growth spurt and achieve a normal adult height

Management

• Reassurance and monitoring of linear growth velocity

Differential Diagnoses

• (Choice A) Celiac Disease

  • Can cause short stature and delayed bone age
  • Typically presents with weight loss and gastrointestinal symptoms (eg, diarrhea, abdominal distension)
  • This patient has appropriate weight gain and no gastrointestinal symptoms

• (Choice C) Familial Short Stature

  • Bone age is normal and matches chronologic age
  • Puberty is not delayed
  • Patients have a normal linear growth velocity (stable percentile), similar to constitutional growth delay
  • One or both parents also have short stature (not the case in this patient)
  • Final adult height remains low

• (Choice D) Growth Hormone Deficiency

  • Causes short stature, delayed puberty, and delayed bone age
  • Slowed linear growth velocity, with height percentiles crossing 2 major percentiles downward (eg, from 50th to 25th)
  • This patient’s height percentile is stable, suggesting normal linear growth velocity

• (Choice E) Hypogonadism (Testosterone Deficiency)

  • Can be congenital (eg, Klinefelter syndrome) or acquired (eg, testicular trauma or infection)
  • Delayed puberty, but normal bone age
  • Most patients have gynecomastia, which is not present in this case
  • Often associated with increased LH, FSH, and estradiol due to lack of testosterone’s negative feedback

• (Choice F) Hypothyroidism

  • Causes declining linear growth velocity and pubertal delay
  • This patient’s linear growth velocity is normal
  • No symptoms of hypothyroidism (eg, fatigue, constipation, cold intolerance)

Learning Objective

Constitutional growth delay is characterized by short stature (height below the 2nd percentile), delayed bone age, and a normal linear growth velocity after age 3. Delayed puberty is common, but patients eventually experience a normal growth spurt and achieve a normal adult height.

Hyperprolactinemia Due to Antipsychotic Use

This patient’s history of paranoia, social isolation, and disorganized behavior suggests psychosis, likely being treated with an antipsychotic medication. Antipsychotic drugs block dopamine, and since dopamine inhibits prolactin release, dopamine blockade in the tuberoinfundibular pathway can lead to hyperprolactinemia. This can result in gynecomastia, galactorrhea, menstrual dysfunction, and decreased libido.

Risperidone, a commonly used second-generation antipsychotic (SGA), is known for its high frequency of prolactin elevation and is the most likely cause of this patient’s symptoms.

Differential Diagnoses

• (Choice A) Aripiprazole

  • Functions as a dopamine D2 receptor antagonist and partial agonist
  • Due to its partial agonism, it is less likely to cause hyperprolactinemia

• (Choice B) Galactocele

  • A benign milk collection in lactating women, usually due to a blocked duct
  • This patient’s pregnancy test is negative, and there is no indication of breastfeeding

• (Choice C) Hypothyroidism

  • Can predispose to hyperprolactinemia, but typically presents with:
    • Lethargy
    • Dry skin
    • Cold intolerance
  • This patient has none of these symptoms, and her TSH level is normal

• (Choice D) Polycystic Ovary Syndrome (PCOS)

  • Associated with elevated androgens, leading to:
    • Acne
    • Hirsutism
    • Menstrual irregularities
  • Can occasionally cause elevated prolactin levels, but this patient lacks symptoms of hyperandrogenism

• (Choice E) Prolactinoma

  • A benign pituitary tumor causing:
    • Headaches
    • Visual disturbances (due to mass effect)
  • Can lead to extremely high prolactin levels (>200 ng/ml)
  • In contrast, medication-induced hyperprolactinemia typically results in prolactin levels between 25-100 ng/ml

• (Choice G) Valproate

  • An anticonvulsant used for:
    • Bipolar disorder
    • Seizures
  • Does not cause galactorrhea, but is associated with:
    • Blood dyscrasias
    • Liver toxicity

Learning Objective

Antipsychotic medications can cause hyperprolactinemia due to dopamine blockade in the tuberoinfundibular pathway. Risperidone has a particularly high risk of prolactin elevation. In contrast, prolactinomas typically produce very high prolactin levels (>200 ng/ml), whereas antipsychotic-induced hyperprolactinemia generally results in levels between 25-100 ng/ml.

Type 2 Diabetes in Adolescents and Young Adults

This patient with a new diagnosis of diabetes mellitus (elevated hemoglobin A1c level, symptomatic hyperglycemia [e.g., polydipsia], vulvovaginal candidiasis) likely has type 2 diabetes. Although type 2 diabetes is more common in older individuals, the incidence in adolescents and young adults is increasing in association with a rise in childhood obesity (e.g., BMI ≥95th percentile for age).

Excess adiposity contributes to insulin resistance, which is further aggravated by rising growth hormone levels at puberty. A positive family history of diabetes increases the risk; the incidence is also higher in certain racial and ethnic groups (e.g., Black and Native American patients).

Associated Features of Insulin Resistance

• Central (visceral) obesity
• Elevated blood pressure
• Lipid abnormalities (e.g., hypertriglyceridemia, decreased HDL levels)
• Acanthosis nigricans: Velvety, hyperpigmented patches in intertriginous areas (e.g., neck, axillae)

Differential Diagnoses

• (Choice A) Growth Hormone-Secreting Pituitary Adenoma

  • Can cause diabetes mellitus
  • Bitemporal hemianopia may occur due to optic chiasm compression
  • However, patients typically display gigantism or acromegaly rather than obesity

• (Choice B) Chronic Pancreatitis

  • Can lead to exocrine pancreatic insufficiency → steatorrhea
  • Loss of beta cells can cause secondary diabetes
  • However, this is much more common at age >30 and is typically associated with:
    • Chronic abdominal pain
    • Nausea
    • Weight loss

• (Choice D) Glucokinase Gene Mutation (MODY – Maturity-Onset Diabetes of the Young)

  • Characterized by decreased insulin secretion at any glucose level
  • Patients are typically not obese
  • Hyperglycemia is usually mild (<140 mg/dL)

• (Choice E) Autoimmune Type 1 Diabetes

  • Pancreatic autoantibodies cause loss of islet cells
  • Leads to absolute insulin deficiency (vs. relative deficiency in type 2 diabetes)
  • Increased ketone production can lead to diabetic ketoacidosis (DKA)
  • Typical features include:
    • Rapid-onset hyperglycemia
    • Ketonuria (absent in this patient)
    • Hyperventilation
    • Abdominal pain

Learning Objective

The incidence of type 2 diabetes in adolescents and young adults is increasing due to rising childhood obesity. Excess adiposity contributes to insulin resistance, which is further aggravated by pubertal growth hormone levels. Other findings associated with insulin resistance include acanthosis nigricans, central obesity, hypertension, and lipid abnormalities.

Diabetic Nephropathy (DN)

Diabetic nephropathy (DN) is exceedingly common in patients with both type 1 and type 2 diabetes mellitus and is characterized by persistent albuminuria (>30 mg/g) and/or decreased glomerular filtration rate (GFR) (e.g., elevated creatinine). DN is typically slowly progressive for years before clinical signs occur.

The diagnosis is usually made clinically, with renal biopsy reserved for patients with an unclear presentation. In the absence of signs suggesting another etiology (e.g., casts in the urine, rapid progression of renal dysfunction), the diagnosis can be presumed in patients who have persistent albuminuria and/or decreased GFR and either of the following:

• Prolonged history of diabetes:

  • Type 1 diabetes is typically clinically obvious at onset; therefore, DN may be assumed in those with a disease duration of ≥5 years.
  • In contrast, type 2 diabetes is often asymptomatic, so patients may have this disorder for years before diagnosis, making the duration of the disease difficult to calculate.

• Proliferative Diabetic Retinopathy (PDR):

  • Both PDR (i.e., retinal neovascularization) and DN are chronic microvascular complications of diabetes due to persistent hyperglycemia, so the presence of PDR correlates with diabetic kidney disease.
  • Therefore, patients may be diagnosed with DN if there is concomitant PDR, regardless of the length of time since diagnosis.

Differential Diagnoses

• (Choice A) Renal Size Discrepancy

  • Seen in patients with unilateral chronic kidney disease (e.g., renal artery stenosis, ureteral obstruction).
  • With prolonged DN, both kidneys would likely be shrunken and atrophic.

• (Choice B) Left Ventricular Hypertrophy (LVH)

  • Correlates with chronic, uncontrolled hypertension.
  • Although uncontrolled hypertension may be seen in patients with chronic kidney disease, it is not specific for DN.

• (Choice C) Microscopic Hematuria

  • Although microscopic hematuria may occur with DN, it is nonspecific and may be seen in a variety of diseases (e.g., malignancy, nephritic syndromes).

• (Choice D) Rapidly Progressive Renal Dysfunction

  • DN usually develops over a prolonged period (years).
  • Rapidly progressive renal dysfunction suggests an alternate diagnosis (e.g., lupus nephritis) and further workup.
  • Renal biopsy may be indicated.

Learning Objective

Diabetic nephropathy (DN) is characterized by persistent albuminuria (>30 mg/g) and/or decreased glomerular filtration rate. In the absence of signs suggestive of another etiology, the diagnosis can be presumed in patients with renal dysfunction and either:

• A prolonged history of diabetes (≥5 years for type 1 diabetes)
• Proliferative diabetic retinopathy, which correlates with the presence of DN

Rheumatic fever is associated with a history of untreated sore throats, fever, joint pain, and rash. Differential diagnoses include systemic lupus erythematosus, infective endocarditis, viral exanthema, reactive arthritis, rheumatoid arthritis, and Kawasaki disease. A is incorrect as systemic lupus erythematosus would have additional systemic involvement. B is incorrect as infective endocarditis would present with a history of intravenous drug use or prosthetic valves. C is incorrect as viral exanthema would not cause joint pain. E is incorrect as reactive arthritis follows gastrointestinal or genitourinary infections.

Patient education is crucial in the management of BPH. The patient should be informed about the importance of regular follow-up appointments, lifestyle modifications to improve symptoms, the potential complications of BPH, and the importance of seeking medical attention for worsening symptoms.

The most appropriate action for the GP in this situation is to repeat the blood test to confirm the results. The eGFR calculation may be inaccurate due to factors such as ethnicity and age. It is important to confirm the diagnosis of chronic kidney disease before initiating any treatment or referral. Explaining the results to the patient and monitoring kidney function are important, but they should be done after confirming the diagnosis. Starting treatment with antihypertensive medication is not necessary at this stage, as the patient’s blood pressure is already well controlled.

Retained tampons can cause persistent discharge and irritation. Removing the tampon and managing any resultant infection or irritation is crucial. Differential diagnoses include: 1. Retained foreign objects (e.g., tampons), 2. Bacterial vaginosis, 3. Candida albicans, 4. Atrophic vaginitis, 5. Contact dermatitis, 6. Diabetes-related infections, 7. Vulvar malignancies.

An exercise stress test is most appropriate to define the cardiac origin of chest pain during exercise. A chest X-ray and transthoracic echocardiography are useful but do not specifically assess exercise-induced ischemia. Blood glucose and haemoglobin tests are not directly related to diagnosing cardiac chest pain. The exercise stress test evaluates for myocardial ischemia by assessing ECG changes during physical exertion.

Transoesophageal echocardiography (TOE) is the most sensitive investigation for aortic dissection. A chest X-ray and transthoracic echocardiography are useful but less sensitive. An exercise stress test and serum enzymes are not relevant for diagnosing aortic dissection. TOE provides detailed images of the aorta and can quickly confirm the presence of a dissection.

Endoscopy is useful for assessing oesophageal causes of chest pain, such as GERD. An exercise stress test and transthoracic echocardiography are more relevant for cardiac causes. Serum enzymes and chest X-ray do not directly assess oesophageal conditions. Endoscopy allows direct visualization of the esophagus and can identify inflammation or structural abnormalities.

Correct answer is to refer to a hepatologist for further assessment and potential antiviral therapy. Differential diagnoses include autoimmune hepatitis, alcoholic liver disease, non-alcoholic fatty liver disease, hemochromatosis, Wilson’s disease, alpha-1 antitrypsin deficiency, and drug-induced liver injury. Vaccination is inappropriate in an already infected patient; antivirals might be necessary but require specialist input; lifestyle modifications alone are insufficient; liver biopsy may be considered after hepatology consultation.

The patient’s presentation, including persistent lymphadenopathy and elevated lymphocytes, with a blood film showing sparse cytoplasm, is indicative of Chronic Lymphocytic Leukaemia (CLL). This condition is common in older adults and often presents with lymphadenopathy and elevated lymphocytes. Acute lymphoblastic leukaemia and other conditions like infectious mononucleosis or myeloma have different clinical and laboratory features.

The correct answer is- Malabsorption due to Coeliac disease. Coeliac disease can cause malabsorption, leading to iron deficiency anemia and fatigue. Noncompliance with a gluten-free diet could contribute, but malabsorption is the direct cause. Differential diagnoses include iron deficiency anemia, vitamin B12 deficiency, folate deficiency, inflammatory bowel disease, small intestinal bacterial overgrowth, chronic gastrointestinal bleeding, and thyroid dysfunction.

The likely diagnosis is dry macular degeneration . It presents with gradual loss of central vision and distortion of vision. Differential diagnoses include wet macular degeneration, retinal detachment, central retinal artery occlusion, and vitreous haemorrhage.

The correct answer is- Corneal light reflex test. The corneal light reflex test helps assess eye alignment by observing the reflection of light on the corneas. Differential diagnoses include congenital esotropia, intermittent exotropia, pseudostrabismus, refractive error, retinoblastoma, cataract, and neurological disorder.

Blood glucose level, urine analysis, and HbA1c are necessary to confirm the diagnosis of type 1 diabetes mellitus. Thyroid function tests can help to rule out hyperthyroidism as a possible cause of the patient’s symptoms.

The correct answer is- Polymyalgia rheumatica (PMR). The age of the patient, sudden onset of stiffness, and prolonged morning stiffness are characteristic of PMR. Other conditions like rheumatoid arthritis and fibromyalgia have different clinical presentations. Differential diagnoses include rheumatoid arthritis, osteoarthritis, fibromyalgia, depression, multiple myeloma, temporal arteritis, and hypothyroidism.

The correct answer is- Non-maleficence (do no harm). The GP must ensure that any action taken does not intentionally harm the patient, such as administering a medication with the intent to hasten death. Differential diagnoses include ethical dilemmas in palliative care, end-of-life care issues, anxiety in family members, misunderstanding of medical processes, potential elder abuse, depression in family members, and caregiver fatigue.

Obesity is a major risk factor for a number of chronic diseases, including type 2 diabetes, heart disease, stroke, and sleep apnea. It is important to address obesity early to reduce the risk of these complications.

The correct answer is- Chromosomal abnormalities. Early miscarriages are often due to isolated chromosomal abnormalities, which are usually not recurrent. Differential diagnoses include uterine abnormalities, hormonal imbalance, infection, immunological disorders, cervical incompetence, lifestyle factors, and thrombophilia.

Referral for adenotonsillectomy is the most appropriate management for a child with obstructive sleep apnea due to enlarged tonsils. Differential diagnoses include: 1) Allergic rhinitis 2) Asthma 3) Attention deficit hyperactivity disorder 4) Gastroesophageal reflux disease 5) Obesity 6) Craniofacial abnormalities 7) Neuromuscular disorders

The correct answer is- Abstain from sexual activity during outbreaks. Avoiding sexual contact during active outbreaks reduces the risk of transmission to partners. Differential diagnoses include syphilis, gonorrhea, chlamydia, balanitis, chancroid, fixed drug eruption, and Behçet’s disease.

The most appropriate management involves prescribing analgesics and encouraging deep breathing to prevent complications such as pneumonia. Differential diagnoses include: rib fracture, pneumothorax, lung contusion, splenic injury, hepatic injury, kidney trauma, and intercostal muscle strain. Elastic rib belts or surgical interventions are less supported by evidence or unnecessary for simple fractures.

The most appropriate initial treatment for a confirmed DVT is to start low molecular weight heparin (LMWH), such as enoxaparin, to prevent further clot formation and embolization. Differential diagnoses include cellulitis, Baker’s cyst, muscle strain, venous insufficiency, lymphedema, and superficial thrombophlebitis. Oral aspirin is not effective for treating DVT. Thrombolytic therapy is reserved for massive DVT with severe symptoms. Warfarin is typically started after LMWH, not immediately. Compression stockings are supportive but not a primary treatment.

The appropriate management step for retinal detachment is immediate referral for sealing of retinal tears. The symptoms suggest retinal detachment, which requires urgent surgical intervention. Differential diagnoses include vitreous haemorrhage, central retinal artery occlusion, and central retinal vein thrombosis.

The correct answer is- Sarcoidosis is compatible with a long and active life. Most patients with sarcoidosis have a good prognosis and can lead normal lives, although some may require intermittent treatment. Differential diagnoses include tuberculosis, Hodgkin’s lymphoma, non-Hodgkin’s lymphoma, granulomatosis with polyangiitis, systemic lupus erythematosus, thyroid cancer, and metastatic breast cancer.

The most appropriate management is urgent laparoscopy due to the presence of circulatory collapse and severe pain, indicating a possible ruptured ectopic pregnancy. Differential diagnoses include: 1. Ectopic pregnancy, 2. Ovarian torsion, 3. Acute appendicitis, 4. PID, 5. Ovarian cyst rupture, 6. Endometriosis, 7. Gastrointestinal perforation.

Correct answer: Order serological tests for tick-borne diseases
Given Mia’s symptoms and travel history, Lyme disease should be considered. Serological tests can confirm tick-borne diseases like Lyme disease, which may present with a rash, fever, and joint pain.

Incorrect answers:
❌ Start oral antihistamines – Antihistamines are not appropriate for suspected tick-borne diseases like Lyme disease.
❌ Administer intravenous antibiotics – Antibiotics should be considered only after confirming a diagnosis, not as the first step.
❌ Provide supportive care and monitor – While supportive care is important, it does not address the potential underlying infectious cause.
❌ Initiate corticosteroid therapy – Steroids may be necessary for certain conditions but should not be started without a confirmed diagnosis.

Learning Objective:
To recognize tick-borne diseases in travelers and understand the role of serological testing in diagnosis.. Differential diagnoses include: 1) Lyme disease, 2) Rocky Mountain spotted fever, 3) Viral exanthem, 4) Juvenile idiopathic arthritis, 5) Rheumatic fever, 6) Parvovirus infection, 7) Systemic lupus erythematosus. A – Antihistamines are not indicated for suspected tick-borne disease. B – Antibiotics may be needed but should follow confirmation of diagnosis. D – Supportive care is important but does not address the underlying cause. E – Steroids may be used in certain conditions but not as an initial step without diagnosis.

Polycystic ovary syndrome (PCOS) is the most likely cause given Maria’s irregular menstrual cycles and hirsutism. Tubal obstruction is less likely with normal semen analysis. Hyperprolactinemia usually presents with additional symptoms. Endometriosis often has different symptoms. Uterine fibroids would present with other symptoms. Differential diagnoses include PCOS, hypothyroidism, ovarian insufficiency, early menopause, chronic anovulation, adrenal hyperplasia, and stress-related infertility.

Topical estrogen therapy is the most appropriate initial management for postmenopausal women experiencing dyspareunia due to vaginal atrophy. Referral to a pelvic pain specialist may be needed if symptoms persist. Cognitive-behavioral therapy is more appropriate for psychological factors. Vaginal dilators and pelvic floor physical therapy may be considered if topical estrogen therapy fails, but are not first-line treatments. Differential diagnoses include vaginal atrophy, vulvovaginal atrophy, lichen planus, endometriosis, pelvic inflammatory disease, vestibulodynia, and vulvodynia.

The correct answer is- Seronegative rheumatoid arthritis. A positive anti-CCP with a negative rheumatoid factor suggests seronegative rheumatoid arthritis, which can still be aggressive and requires treatment. Osteoarthritis, SLE, gout, and fibromyalgia have different diagnostic profiles. Differential diagnoses include seronegative rheumatoid arthritis, osteoarthritis, SLE, psoriatic arthritis, gout, viral arthritis, and spondyloarthritis.

Methotrexate, in combination with folic acid, is used to manage rheumatoid arthritis by modifying the disease course and preventing joint damage. Folic acid is given to reduce the side effects of methotrexate, such as gastrointestinal issues and mucositis. Differential diagnoses for consideration include rheumatoid arthritis, SLE, osteoarthritis, gout, psoriatic arthritis, viral arthritis, and spondyloarthritis. Methotrexate is effective in managing rheumatoid arthritis and modifying the disease course, while folic acid helps mitigate its side effects.

The Red Book promotes evidence-based medicine, ensuring that recommended interventions offer clear benefits for specific populations. Screening tests without proven benefit are not recommended to avoid potential risks.

Correct answer: Susan’s presentation is highly suggestive of a possible ectopic pregnancy, and a serum beta-hCG test is crucial for diagnosis. Differential diagnoses include: 1) Ectopic pregnancy, 2) Acute appendicitis, 3) Ovarian torsion, 4) Ruptured ovarian cyst, 5) Pelvic inflammatory disease, 6) Endometriosis, 7) Urinary tract infection. B – An ultrasound is important but follows confirmation of pregnancy. C – Antibiotics are not indicated without confirmation of PID. D – Laparotomy is invasive and follows confirmation. E – NSAIDs do not address the potential ectopic pregnancy.

The correct answer is- Refer urgently to a hematologist. The presence of anemia, lymphadenopathy, and weight loss warrants urgent referral for further investigation. Differential diagnoses include infectious mononucleosis, iron deficiency anemia, depression, substance abuse, chronic fatigue syndrome, tuberculosis, and non-Hodgkin’s lymphoma.

The correct answer is- Acute pancreatitis. The combination of epigastric pain radiating to the back and elevated lipase levels is indicative of acute pancreatitis, commonly associated with alcohol use. Differential diagnoses include peptic ulcer disease, gallstones, gastritis, hepatitis, myocardial infarction, esophageal spasm, and biliary colic.

Correct answer is – MRI of the brain and internal auditory canal. This investigation can help rule out acoustic neuroma and other central causes of sudden sensorineural hearing loss. Tympanometry and pure tone audiometry assess hearing loss but do not identify the underlying cause. A CT scan is less sensitive for soft tissue lesions like neuromas. Blood glucose level is irrelevant to the immediate investigation of hearing loss. Differential diagnoses include acoustic neuroma, labyrinthitis, sudden idiopathic sensorineural hearing loss, vascular events, and multiple sclerosis.

Otitis externa is the most likely diagnosis given the patient’s history of surfing, ear canal debris, and pain with earlobe movement. The symptoms are consistent with inflammation and infection of the external ear canal.

The correct answer is- Explain that geographic tongue is benign and not cancerous. Reassuring the patient about the benign nature of geographic tongue can alleviate his concerns. Differential diagnoses include oral candidiasis, tongue cancer, iron deficiency anemia, herpes simplex infection, vitamin B12 deficiency, allergic reactions, and lichen planus.