Are MEFV mutations susceptibility factors in enthesitis-related arthritis patients in the eastern Mediterranean?
Bora Gülhan1, Abdulkadir Akkuş, Levent Ozçakar
1Hacettepe University, İhsan Doğramacı Children's Hospital, Department of Pediatric Nephrology and Rheumatology, Ankara, Turke. boragulhan@yahoo.comy.
Objectives:
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.
Methods:
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.
Results:
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.
Conclusions:
Our findings suggest that MEFV mutations may represent a susceptibility factor for ERA in the populations of the eastern Mediterranean.
Insights
Genetic mutations in the MEFV gene may increase susceptibility to enthesitis-related arthritis (ERA) in Eastern Mediterranean populations. This study investigated MEFV mutations in HLA-B27 negative ERA patients.
Area of Science:
- Rheumatology
- Genetics
- Immunology
Background:
- Enthesitis-related arthritis (ERA) is a complex genetic disorder.
- While HLA-B27 is a known genetic factor, it doesn't account for the entire genetic predisposition in ERA.
- Familial Mediterranean fever (FMF) is a common autoinflammatory disorder in the Eastern Mediterranean, caused by MEFV gene mutations.
Purpose of the Study:
- To investigate the clinical and imaging characteristics of ERA patients.
- To determine the frequency of MEFV gene mutations in ERA patients who are negative for HLA-B27.
Main Methods:
- Clinical and imaging data were collected from 53 ERA patients.
- HLA-B27 status was determined for all patients.
- MEFV gene mutation analysis was performed on HLA-B27 negative patients.
Main Results:
- Peripheral arthritis was observed in all patients, and sacroiliitis in 26.
- Ultrasonography detected enthesitis in 6 patients, while physical examination found none.
- Among HLA-B27 negative patients, 9 (approximately 19%) carried MEFV mutations, including homozygous M694V, heterozygous M694V, heterozygous E148Q, and heterozygous K695R.
- One patient later developed FMF symptoms.
Conclusions:
- MEFV gene mutations may be a susceptibility factor for ERA in Eastern Mediterranean populations.
- Further research is warranted to understand the role of MEFV mutations in ERA pathogenesis.
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