A family case with Familial Mediterranean fever

Abstract

Introduction. Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by periodic episodes of fever and recurrent polyserositis. It is caused by a dysfunction of pyrin as a result of various mutations within MEFV gene, some causing very severe cases, while others may have milder symptoms. Purpose. To report the case of a family in which 5 members were confirmed genetically with mutations characteristic for FMF out of which 4 displayed similar symptoms. The 4 members displaying signs are the father and the 3 out of 6 siblings (2 males+ 1 female). Material and methods. Disease history and results of genetic testing of the family members. Results. The main presenting complaint in all members is the recurrent abdominal pain variably followed by cramps and flatulence, with/without diarrhea which manifest as attacks for 2-3 days a month. Symptomatic disease onset varied from 9 to 45 y.o., 3 members have left knee arthritis, 4 members have pleuritic chest pain, one has erythema nodosum in both shins and one member is asymptomatic. The father tested genetically as follows FMF-V726A carrier; FMF-E148Q homozygote. and all siblings FMF-V726A heterozygote; FMF-E148Q heterozygote. 4 patients manage to control the disease with diet and colchicine, and the asymptomatic one doesn't use colchicine because of breastfeeding period. Conclusions. Although traditionally fever is a considered a hallmark of FMF, with the discovery of genetic mutations, we can confirm a greater variety of clinical presentation, not all cases presenting with all classical symptoms. even-though all siblings have the same mutation they have different symptoms.