Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children

Abstract

Eastern Mediterranean FMF patients have a milder disease phenotype once they migrate to Europe, reflecting the effect of environment on the expression of a monogenic disease.

MEFV Mutation Frequency in Pediatric Patients with Familial Mediterranean Fever and its Relationship with Clinical Phenotypes in Marmara Region of Turkey

“…The complaints by frequency order in the Turkish FMF study group were reported to be abdominal pain (93%), fever (91.3%), arthritis (58.3%), and chest pain (4%) (10). In another study, it was reported that abdominal pain and fever were on the top of the presenting complaints (19). Fever (100%), abdominal pain (82%), chest pain (43%), and arthritis (37%) were detected in most Arabs (20).…”

High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey

“…The E148Q mutation occurs at a frequency ranging from 1.4-11.4% according to some previous studies. 7,15,16,[19][20][21] Although, there were disagreement regarding whether the E148Q mutation even exhibit disease, it has been reported as disease causing mutation in FMF. 20 Two recent studies from eastern and southeast Turkey reported that the E148Q mutation occurs at frequencies of 34.1% and 30.7% in these populations, respectively, which is approximate to the frequency that we identified at 40.1%.…”

“…2 The M694V mutation was reported to have a relatively severe phenotype, whereas V726A and E148Q have been reported with a milder disease course. [1][2][3]7 FMF is more prevalent among certain ethnic groups such as the Turks, Arabs, Jews and Armenians. 8 Turkey is one of the few countries in the world having high FMF frequency with the estimated prevalence of 1:400 to 1:1000.…”

“…2,7 Gene sequence and phenotypic characteristics of FMF patients change according to geographic regions, which include people from certain ethnic origins both in Turkey and in the World. 1,2,[7][8][9][10][11][12][13][14][15][16][17] Unfortunately, there is a paucity of studies that have investigated the genotypic and phenotypic variations of FMF patients in southeast Turkey. 3 Therefore, we aimed to investigate the genotypic and phenotypic characteristics of children with FMF in southeastern Turkey.…”

Alta frecuencia de variación de la secuencia de la mutación E148Q en niños con fiebre mediterránea familiar en el sureste de Turquía

“…[1][2][3]7 La FMF es más prevalente en determinados grupos étnicos como turcos, árabes, judíos y armenios. 8 Turquía es uno de los pocos países del mundo que tiene una alta frecuencia de FMF, con una prevalencia estimada de 1:400 a 1:1000.…”