Atypical Autosomal-Dominant Inheritance of Familial Mediterranean Fever

Familial Mediterranean fever (FMF) was previously believed to be an autosomal recessive disease. We present a patient with only one pathogenic variation of the MEFV gene due to the c.2177T>C mutation. The patient had clinical features of recurrent fevers and abdominal pain, serositis, and a history of multiple abdominal surgeries for pain. He was eventually diagnosed with FMF. This case report demonstrates an example of the rare autosomal-dominant phenotype of FMF.