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Clinical features and disease severity of Turkish FMF children carrying E148Q mutation
Fatma Aydın1, Nilgün Çakar2, Zeynep Birsin Özçakar2
1Department of Pediatric Rheumatology, Ankara University School of Medicine, Ankara, Turkey.
Background:
Familial Mediterranean fever (FMF) is the most common hereditary monogenic autoinflammatory disease caused by mutations in the MEFV gene. It is controversial whether E148Q alteration is an insignificant variant or a disease-causing mutation. The aim of this study was to evaluate the clinical features and disease severity of FMF patients carrying E148Q mutation.
Methods:
Files of FMF patients were retrospectively evaluated. Patients with at least one E148Q mutation were included to the study. The clinical characteristics and disease severity of the patients who were carrying only E148Q mutation were compared with the patients who were compound heterozygous for E148Q and homozygous for M694V mutation.
Results:
The study group comprised 33 patients who were homozygous or heterozygous for E148Q; 34 with compound heterozygous E148Q mutations and 86 patients who had homozygous M694V mutation. Patients who had only E148Q mutation were found to have the oldest mean age of disease onset and lowest mean disease severity score. Attack frequency and colchicine doses were lower in patients with only E148Q mutation as compared with the other two groups. The frequency of clinical findings such as fever, abdominal pain, arthralgia, and arthritis among the three groups was similar.
Conclusion:
Familial Mediterranean fever patients with only E148Q mutation are presenting with late-onset and milder disease course despite having similar clinical findings as compared with patients who had other mutations. Finally, we imply that E148Q is a mutation and colchicine treatment should be given.
Insights
Familial Mediterranean Fever (FMF) patients with only the E148Q mutation experience a milder, later-onset disease. This suggests E148Q is a pathogenic mutation warranting colchicine treatment for FMF.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Familial Mediterranean Fever (FMF) is a prevalent monogenic autoinflammatory disorder.
- Mutations in the MEFV gene cause FMF.
- The pathogenic role of the E148Q variant in FMF is debated.
Purpose of the Study:
- To investigate the clinical manifestations and disease severity in FMF patients with the E148Q mutation.
- To compare E148Q carriers with other FMF patient groups.
Main Methods:
- Retrospective analysis of FMF patient records.
- Inclusion of patients with at least one E148Q mutation.
- Comparison of clinical features and disease severity between patients with only E148Q, compound heterozygous E148Q, and homozygous M694V mutations.
Main Results:
- Patients with only E148Q mutation exhibited a later mean age of disease onset and lower mean disease severity scores.
- Lower attack frequency and colchicine doses were observed in the E148Q-only group compared to others.
- Clinical findings like fever, abdominal pain, and arthritis were similar across groups.
Conclusions:
- FMF patients with solely E148Q mutations present with a milder, late-onset disease course.
- The E148Q variant is implied to be a pathogenic mutation.
- Colchicine treatment is recommended for FMF patients with the E148Q mutation.
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