Rare Diseases Symptoms Automatic Extraction

Are MEFV mutations susceptibility factors in enthesitis-related arthritis patients in the eastern Mediterranean?

[familial mediterranean fever]

Enthesitis-related arthritis (ERA), is a complex genetic disease. Although HLA-B27 is well established, it does not explain all the genetic load in ERA. Familial Mediterranean fever (FMF), caused by mutations in the MEFV gene, is a frequent autoinflammatory disorder in the eastern Mediterranean.We investigated the clinical and imaging features of 53 ERA patients, as well as the frequency of MEFV gene mutations in those who were HLA-B27 negative.The mean age of the patients was 13.3±2.2 years and 49 were boys. Peripheral arthritis was present in all and sacroiletis in 26 patients. Ultrasonography showed enthesitis in 6 patients of the tendons, whereas these were assessed to be normal by physical examination. Forty patients (75.5%) were positive for HLA-B27. MEFV analysis was performed for patients who were HLA-B27 negative. One patient refused MEFV analysis. 9 patients carried MEFV mutations: 2 patients were homozygous for M694V (both patients were subsequently started colchicine along with ERA treatment), 5 patients were heterozygous for M694V mutation, 1 patient was heterozygous for E148Q, and 1 patient was heterozygous for K695R mutation. None of the patients had features suggesting FMF at diagnosis of ERA; 1 patient subsequently developed typical FMF attacks.Our findings suggest that MEFV mutations may represent a susceptibility factor for ERA in the populations of the eastern Mediterranean.

Diseases presenting "enthesitis" symptom

  • familial mediterranean fever

This symptom has already been validated