Familial Mediterranean Fever in the World

Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification

“…11,12 Furthermore, the distribution of pathogenic variants with homozygous occurrences in GJB2 (p.V37I and c.35delG in East Asians and Europeans, respectively), HBB (p.E7K and p.E7V in Africans), and MEFV (p.V726A in Europeans) followed the expected distribution based upon the reported prevalence of autosomal recessive deafness (GJB2, OMIM 220290), hemoglobinopathies (HBB, OMIM 141900), and Familial Mediterranean Fever (MEFV, OMIM 249100) in these subpopulations. [13][14][15] These observations demonstrate that ExAC is not overenriched for pathogenic variants in the specific disorders tested, thereby supporting its utility as a control cohort in genetic analysis.…”

Three Family Members with Familial Mediterranean Fever Carrying the M694V Mutation Showed Different Clinical Presentations

“…A typical FMF attack lasts approximately 3 days (1). It affects primarily people of Mediterranean ancestry, most commonly Sephardic Jews, Armenians, Arabs and Turks (2).…”

Amyloid Goiter Due to Familial Mediterranean Fever in a Patient with Byler Syndrome: A Case Report

“…As the rate of FMF carriage is high in the Turkish population and consanguineous marriages are common, the risk of multiple inherited diseases is high (2,6). In our case, the coexistence of Byler Syndrome and FMF disease led to double organ failure, and liver and kidney transplantations were required.…”