| Objective(s): Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is
frequently present among individuals of Mediterranean origin. Differences in the clinical
manifestations of FMF between different ethnic groups have been documented. The aim of the
present study was to determine the most common characteristics of FMF and the relationship
between clinical findings and the most common mutant alleles of the MEFV gene in an Iranian
Azeri Turk population.
Materials and Methods: We analyzed clinical and genetic data from 415 patients identified as
having FMF clinical symptoms and who were referred to the Molecular Genetics Laboratory of
Tabriz/Iran over the last 3 years. The mutation type and clinical characteristics were determined
for each patient.
Results: The following primary clinical characteristics of the patients were observed: peritonitis
was observed in 378 (93.8%), high‐grade fever in 351 (86.88%), arthritis in 215 (54.57%),
pleuritis in 207 (53.49%), myalgia in 153 (41.69%), AA amyloidosis in 149 (40.16%), and
erysipelas‐like erythema in 54 (14.96%) subjects. A positive response to colchicines treatment
was noted in 374 (95.1%) patients including 303 patients with two mutated alleles and 71
patients with one identified mutation.
Conclusion: In contrast to previous studies, there was no significant association between M694V
mutation and development of amyloidosis. The M680I/M680I, M680I, M694I, and M694V/R761H
genotypes were found to be associated with the development of amyloidosis. These results
indicate that physicians need to pay careful attention to patients with asymptomatic or mildly
symptomatic FMF with these genotypes. |