Results 2 carrier for M694V and two patients who were homozygote for MEFV mutations. Both of these patients were among the most severe patients in the group. One had an excellent response to etanercept whereas the other was resistant to anti-TNF and other conventional treatments and had only a partial response to thalidomide. Although the number of severe mutations were increased in this small ...

BACKGROUND/AIMS Three missense mutations clustered on the carboxyl-terminal portion of the MEFV gene (M680I, M694V, and V726A) have been observed in over 80% of affected alleles in several ethnic groups of familial Mediterranean fever patients. Several immunologic abnormalities were found both in cellular and humoral components in Mediterranean fever patients. Those observations have pointed th...

Patients and results Among the 708 patients diagnosed with FMF; arthritis was defined in 288 (40,7%) (female/male 150/138) cases. In 192 (66%) children the affected joints were observed primarily as the ankles, subsequently followed by knees in 148 (51%) cases. The incidence of the rare articular involvements were respectively, the elbows in 14 (4,8%) children, the wrists in 11 (3,8%) children ...

OBJECTIVE The gene causing familial Mediterranean fever (FMF)-an autosomal recessive disease characterized by recurrent short episodes of fever associated most commonly with peritonitis, pleuritis, and arthritis-has recently been found and several mutations identified. The most severe complication of the disease is amyloidosis, which can lead to renal failure. The aim of this study was to inves...

BACKGROUND Familial Mediterranean fever (FMF) is an autosomal recessive disease mainly affecting particularly Arabs, Non-Ashkenazi Jews, Armenians, and Turks. It is an autoinflammatory periodic disorder characterized by febrile and painful attacks due to inflammation involving the serosal membranes in the abdomen, chest or joints. Over 50 mutations have been identified in the MEFV gene responsi...

Results The mean age was 27,5±16 (1-86) years. Our hospital mean follow-up period was 48,5±48 (1-352) months. 1343 patients (67,2%) had no comorbidities. 655 patients (32.8%) had comorbidities. Comorbidities were as follow: Appendectomy 30 (4,6%), cholecystectomy 20 (3,1%), acute rheumatic fever (2,4%), ankylosing spondylitis 155 (23,7%), juvenile idiopathic arthritis 31 (4,6%), rheumatoid arth...

The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics centers. A total of 1579 patients were ana...

Male infertility is a common barrier that prevents successful conception. There have been reports of azoospermia in men with familial Mediterranean fever, some of whom had not been treated with colchicine. Variation in this disorder could be a risk factor for amyloidosis associated with azoospermia. We determined the frequency of 6 of the most common Mediterranean fever gene mutations, M680I, M...

OBJECTIVE Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease which primarily affects non-Ashkenazi Jews, Armenians, Arabs, and Turks. The gene responsible for the disease (MEFV/FMF) has been recently identified. Four common mutations in exon 10 of the MEFV gene seem to account for 86% of the DNA variations identified in patients with FMF. We conducted a phenotype/ge...