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FMF — RACP Paediatrics MCQ

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ModerateIDFMFRACP Paediatrics

A 7-year-old of Turkish descent has recurrent episodes of fever lasting 1-3 days with severe abdominal pain, pleuritic chest pain, and an erysipelas-like rash on the legs. SAA level is elevated between attacks. Genetic testing shows a homozygous MEFV mutation. What is the most likely diagnosis?

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Correct answer: E — Familial Mediterranean fever

Recurrent short febrile episodes with serositis (peritonitis, pleuritis), erysipelas-like rash, Mediterranean ancestry, and MEFV mutation is familial Mediterranean fever (FMF). It is the most common hereditary autoinflammatory disease. Colchicine is the mainstay of treatment, preventing attacks and the development of AA amyloidosis (the major long-term complication).

Reference: RCH Melbourne – 2023 – Periodic Fever CPG; RACP Paediatric Curriculum – Rheumatology