Three Japanese patients (mother and two children) with familial Mediterranean fever associated with compound heterozygosity for L110P/E148Q/M694I and an autosomal true dominant inheritance pattern.

Abstract excerpt

Familial Mediterranean fever (FMF) is characterized by repeated episodes of fever, peritonitis, pleuritis, and synovitis. We describe here 3 Japanese patients (a mother and 2 children) in whom FMF was diagnosed on analysis of MEFV. A 40-year-old woman presented with fever and abdominal pain. The patient had had these symptoms on and off since childhood and consulted many hospitals. A 38-year-old man had abdominal...

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