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Anticoagulation in Renal Failure — MRCP Part 1 MCQ

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HardHaematologyAnticoagulation in Renal FailureMRCP Part 1MRCEM SBAUKMLAPSA

A child has congenital malformed great toes and episodic painful soft-tissue swellings after minor trauma that mature into heterotopic bone. Which action is most important when the diagnosis is suspected?

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Correct answer: E — Avoid biopsy and other soft-tissue trauma

The best answer is “Avoid biopsy and other soft-tissue trauma”. Fibrodysplasia ossificans progressiva is usually caused by a heterozygous activating ACVR1 variant. Congenital great-toe malformation plus progressive flare-associated heterotopic ossification is diagnostic clinically, and biopsy or attempted excision can provoke catastrophic new ossification. Intramuscular injections, forceful manipulation and traumatic dental anaesthesia also require avoidance or careful specialist planning. The key principle is to recognise the phenotype before invasive investigation; tissue confirmation is unnecessary and potentially harmful because trauma itself drives disease progression.

Reference: Fibrodysplasia Ossificans Progressiva — GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK558090/