Familial Mediterranean fever (FMF) in Turkey - Results of a nationwide multicenter study

被引：664

作者：

Tunca, M ^{[1
]}

Akar, S ^{[1
]}

Onen, F ^{[1
]}

Ozdogan, H ^{[1
]}

Kasapcopur, O ^{[1
]}

Yalcinkaya, F ^{[1
]}

Tutar, E ^{[1
]}

Ozen, S ^{[1
]}

Topaloglu, R ^{[1
]}

Yilmaz, E ^{[1
]}

Arici, M ^{[1
]}

Bakkaloglu, A ^{[1
]}

Besbas, N ^{[1
]}

Akpolat, T ^{[1
]}

Dinc, A ^{[1
]}

Erken, E ^{[1
]}

Tirpan, K ^{[1
]}

Ozer, HTE ^{[1
]}

Birlik, M ^{[1
]}

Soyturk, M ^{[1
]}

Senturk, T ^{[1
]}

Balci, B ^{[1
]}

Ozguc, M ^{[1
]}

Dundar, M ^{[1
]}

Akar, E ^{[1
]}

Akar, N ^{[1
]}

Ozel, D ^{[1
]}

Gonen, S ^{[1
]}

Misirlioglu, M ^{[1
]}

Soylemezoglu, O ^{[1
]}

Gunesacar, R ^{[1
]}

Altiok, O ^{[1
]}

Booth, DR ^{[1
]}

Hawkins, PN ^{[1
]}

Touitou, I ^{[1
]}

Aksentijevich, I ^{[1
]}

Matzner, Y ^{[1
]}

Arslan, S ^{[1
]}

Balaban, Y ^{[1
]}

Batman, F ^{[1
]}

Bayraktar, Y ^{[1
]}

Apras, S ^{[1
]}

Calguneri, M ^{[1
]}

Duzova, A ^{[1
]}

Kav, T ^{[1
]}

Ozaltin, F ^{[1
]}

Simsek, H ^{[1
]}

Sivri, B ^{[1
]}

Tatar, G ^{[1
]}

Akkoc, N ^{[1
]}

机构：

[1] Dokuz Eylul Univ, Sch Med, Dept Internal Med, TR-35340 Izmir, Turkey

来源：

MEDICINE | 2005年 / 84卷 / 01期

关键词：

D O I：

10.1097/01.md.0000152370.84628.0c

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Familial Mediterranean fever (FMF) is an autosomal recessive disease that is prevalent among eastern Mediterranean populations, mainly non-Ashkenazi Jews, Armenians, Turks, and Arabs. Since a large proportion of all the FMF patients in the world live in Turkey, the Turkish FMF Study Group (FMF-TR) was founded to develop a patient registry database and analyze demographic, clinical, and genetic features. The cohort was composed of 2838 patients (mean age, 23.0 +/- 13.33 yr; range, 2-87 yr), with a male:female ratio of 1.2:1. There was a mean period of 6.9 +/- 7.65 years from disease onset to diagnosis: the period was about 2 years shorter for each decade since 1981. Ninety-four percent of patients were living in the central-western parts of the country; however, their familial origins (70% from the central-eastern and Black Sea regions) reflected not only the ongoing east to west migration, but also the historical roots of FMF in Turkey. Patients' clinical features included peritonitis (93.7%), fever (92.5%), arthritis (47.4%), pleuritis (31.2%), myalgia (39.6%), and erysipelas-like erythema (20.9%). Arthritis, arthralgia, myalgia, and erysipelas-like erythema were significantly more frequent (p < 0.001) among patients with disease onset before the age of 18 years. Genetic analysis of 1090 patients revealed that M694V was the most frequent mutation (51.4%), followed by M6801 (14.4%) and V726A (8.6%). Patients with the M694V/M694V genotype were found to have an earlier age of onset and higher frequencies of arthritis and arthralgia compared with the other groups (both p < 0.001). In contrast to other reported studies, there was no correlation between amyloidosis and M694V homozygosity in this cohort. However, amyloidosis was still remarkably frequent in our patients (12.9%), and it was prevalent (27.8%) even among the 18 patients with a disease onset after age 40 years. Twenty-two patients (0.8%) had nonamyloid glomerular diseases. The high prevalence of vasculitides (0.9% for polyarteritis nodosa and 2.7% for Henoch-Schonlein purpura) and high frequency of pericarditis (1.4%) were striking findings in the cohort. Phenotype II cases (those patients with amyloidosis as the presenting or only manifestation of disease) were rare (0.3% or less). There was a high rate of a past diagnosis of acute rheumatic fever, which suggested a possible misdiagnosis in children with FMF presenting with recurrent arthritis. To our knowledge, this is the largest series of patients with FMF reported from 1 country. We describe the features of the disease in the Turkish population and show that amyloidosis is still a substantial problem.

引用

页码：1 / 11

页数：11

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