A young adult has recurrent fever episodes lasting 10 to 14 days with migratory myalgia, an erythematous rash and periorbital oedema. A parent is

Question

A young adult has recurrent fever episodes lasting 10 to 14 days with migratory myalgia, an erythematous rash and periorbital oedema. A parent is similarly affected, and testing finds a pathogenic TNFRSF1A variant. What is the diagnosis?

Accepted Answer

Autosomal-dominant TNF receptor-associated periodic fever syndrome (TRAPS)

Answer

Mevalonate-kinase deficiency caused by pathogenic MVK variants

Answer

PFAPA syndrome without a pathogenic TNFRSF1A variant

Answer

Cryopyrin-associated periodic syndrome caused by pathogenic NLRP3 variants

Answer

Familial Mediterranean fever caused by pathogenic MEFV variants

Familial Mediterranean fever — SCE Rheumatology MCQ

A young adult has recurrent fever episodes lasting 10 to 14 days with migratory myalgia, an erythematous rash and periorbital oedema. A parent is similarly affected, and testing finds a pathogenic TNFRSF1A variant. What is the diagnosis?