Clinical differences between North African and Iraqi Jews with familial Mediterranean fever

Abstract

Familial Mediterranean fever (FMF) is an autosomal recessive disease causing attacks of fever and serositis. The gene causing this disease, designated MEFV, was mapped to the short arm of chromosome 16, but has not yet been cloned. North African and Iraqi Jews constitute the two largest population groups suffering from the disease in Israel. In this report we compared the severity of the disease between these two populations. North African Jews were found to have a more severe disease manifested by an earlier age of onset, an increase in frequency and severity of joint involvement, a higher incidence of erysipelas-like erythema, and a higher dose of colchicine required to control symptoms. The involvement of additional genes, environmental factors, and different mutations in MEFV, may explain the clinical variation in disease severity between these two population groups.

The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever

“…Colchicine dosage at the time of the interview and clinical features prior to the initiation of colchicine therapy were recorded on a standardized form featuring an established set of clinical criteria (27), such as fever, abdominal, thoracic, and articular attacks, renal manifestations, and duration and frequency of the attacks. The severity of the disease was calculated from the Tel-Hashomer key (28). The data collected formed the basis for the various phenotype-genotype correlations.…”

Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations

“…Up to the present, 17 mutations that affect the MEFV gene have been found in Mediterranean populations, mainly Jews, Armenians, Turks, Arabs and Italians. 3,[7][8][9][10][11][12][13][14][15][16][17][18][19] A few patients have been also reported outside the Mediterranean region. 1,3,13,16,18,20 The distribution of mutations is variable among populations but the M694V, V726A, M694I and M680I, account for over 80% of mutations.…”

Lack of the Association of the PTPN22 C1858T Gene Polymorphism With Susceptibility to Familial Mediterranean Fever

“…The presence of amyloidosis, positive family history of FMF, and MEFV gene mutations were also detected. Disease severity was evaluated by using severity scoring system for FMF by Pras et al 13 The frequencies of clinical features, amyloidosis, positive family history of FMF, MEFV gene mutations, and disease severity are shown in the Table 1.…”