Common MEFV mutations in Egyptian patients with familial mediterranean fever

الملخص EN

Background : Familial Mediterranean fever (FMF) which is an autosomal recessive condition that primarily affect population of the Mediterranean basin.

If undiagnosed effectively and treated with colchicine for life it may lead to serious consequences in terms of renal amyloidosis and renal failure.

Objectives : We aim to check for the presence of FMF mutations in clinically suspected Egyptian patients, as an important step for family counseling and case management.

Subjects and Methods : The study is a pilot study to check for the presence of FMF mutations among suspected cases (24 cases) from Sharkia Governorate.

The control subjects (24) were selected from healthy volunteers.

We examined FMF mutations by PCR technique for MEFV gene analysis in order to establish a diagnosis of FMF by examining two mutations, M694V and E148Q.

Results : We found 58.3% (14/24 cases) of cohort were positive for M694V mutation, and all cohort were negative for E148Q mutation.

The normal controls were negative for previous two mutations.

Conclusions : PCR technique provides a rapid, reliable, cost-effective, noninvasive, and sensitive test for establishing a diagnosis of FMF in symptomatic patients and also provides a rational basis for medical and genetic counseling of FMF patients and their families.