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Arthritis in children with familial Mediterranean fever
Erdal Ince1, Nilgün Cakar, Mustafa Tekin
1Department of Pediatrics, Ankara University School of Medicine, Turkey. yalcinkaya@tr-net.net.tr
Abstract:
The clinical spectrum of arthritis in 124 children with well-documented familial Mediterranean fever (FMF) was investigated in a retrospective study. Seven mutations in the FMF gene (MEFV) were also screened using restriction enzyme digestion and amplification refractory mutation system techniques in 110 patients. Mean age at the onset of FMF arthritis was 5.93+/-3.50 years, 75% of the patients being under 10 years of age. Arthritis in the lower extremities, upper extremities, and small joints of the hands and feet was noted in 122 (98%), 17 (14%), and 15 (12%) patients, respectively. Three patients had atypical arthritis involving temporomandibular, sacroiliac, and sternoclavicular joints. Although most of the arthritic attacks resolved within a few weeks, 12 (10%) patients developed protracted arthritis persisting for months. Amyloidosis was demonstrated in 17 (14%) patients who had not received colchicine treatment. Mutation analysis confirmed the diagnosis of FMF in 77 (62%) children. The clinical presentations of arthritis in FMF may be an important source of diagnostic confusion in FMF. Mutation analysis is of value in situations of diagnostic uncertainty.
Insights
Familial Mediterranean Fever (FMF) arthritis commonly affects children, primarily in lower extremities. Genetic mutation analysis aids in diagnosing FMF, especially when arthritis symptoms cause confusion.
Area of Science:
- Pediatrics
- Rheumatology
- Genetics
Background:
- Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder.
- Arthritis is a significant clinical manifestation of FMF in pediatric populations.
Purpose of the Study:
- To investigate the clinical spectrum of arthritis in children with FMF.
- To evaluate the utility of MEFV gene mutation analysis in diagnosing FMF-associated arthritis.
Main Methods:
- Retrospective analysis of clinical data from 124 children with FMF.
- Screening for seven MEFV gene mutations in 110 patients using restriction enzyme digestion and ARMS techniques.
Main Results:
- FMF arthritis onset averaged 5.93 years, with 75% under 10.
- Lower extremity arthritis occurred in 98% of patients; protracted arthritis in 10%.
- Amyloidosis was observed in 14% of untreated patients; MEFV mutation analysis confirmed FMF in 62%.
Conclusions:
- Pediatric FMF arthritis presents with a distinct clinical spectrum, often affecting lower extremities.
- Arthritis in FMF can mimic other conditions, necessitating genetic confirmation.
- MEFV mutation analysis is crucial for accurate FMF diagnosis, particularly in cases of diagnostic uncertainty.