Abstract

Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by acute episodes of fever accompanied by severe abdominal pain, pleurisy, arthritis, and skin rash. The clinical variability of the disease has been mainly attributed to MEFV gene allelic heterogeneity and partly to the influence of additional genetic and/or environmental factors. We present a 6-month-old boy who suffered from recurrent fever accompanied by abdominal pain and skin rashes. Molecular screening by polymerase chain reaction (PCR) and sequencing for common mutations causing FMF revealed presence of a 694V/680I compound heterozygote mutation in exon 10 of the related gene. This is the first report of early onset and severe phenotype FMF case associated with a 694V/680I compound heterozygote mutation.

Key words: FMF, mutations; compound heterozygote, early onset.