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The changing face of familial Mediterranean fever
A Livneh1, P Langevitz, D Zemer
1Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, Israel.
Abstract:
Familial Mediterranean fever (FMF) is a genetic disease characterized by painful febrile "attacks" of serositis and the development of amyloidosis. Although FMF has been extensively studied and described, new data have accumulated during the last decade. This report gives an update, focusing specifically on (1) newly characterized manifestations, such as acute scrotal "attacks," protracted febrile myalgia, and spondyloarthropathy; (2) progress made in the diagnosis and treatment of FMF-amyloidosis; (3) experience acquired with colchicine, establishing its safety in common practice, childhood, conception, and pregnancy; (4) colchicine's role in the prevention and treatment of FMF-amyloidosis; (5) new laboratory findings; and (6) new considerations in the differential diagnosis. The most important achievement in recent years, however, is the mapping of the FMF susceptibility gene to chromosome 16p, a finding that raises hopes for prompt cloning of the gene and elucidation of the mechanisms involved in FMF expression.
Insights
Familial Mediterranean fever (FMF) is a genetic disorder causing painful attacks and amyloidosis. Recent advances include new manifestations, improved diagnosis/treatment, and gene mapping to chromosome 16p.
Area of Science:
- Genetics
- Rheumatology
- Internal Medicine
Background:
- Familial Mediterranean fever (FMF) is a genetic autoinflammatory disease.
- Characterized by recurrent febrile attacks of serositis and risk of amyloidosis.
- Recent research has expanded understanding of FMF manifestations and management.
Purpose of the Study:
- To provide an update on recent advancements in Familial Mediterranean fever (FMF).
- Focus on newly characterized manifestations, diagnosis, and treatment of FMF-amyloidosis.
- Highlight progress in colchicine therapy and genetic findings.
Main Methods:
- Review of accumulated data from the last decade.
- Focus on clinical manifestations, diagnostic progress, and therapeutic outcomes.
- Analysis of new laboratory findings and differential diagnosis considerations.
Main Results:
- Newly identified FMF manifestations include acute scrotal attacks, protracted febrile myalgia, and spondyloarthropathy.
- Progress in diagnosing and treating FMF-amyloidosis, with established colchicine safety.
- Mapping of the FMF susceptibility gene to chromosome 16p.
Conclusions:
- Colchicine is safe and effective for FMF prevention and treatment, including during pregnancy.
- New insights into FMF manifestations and diagnosis are available.
- Gene mapping offers potential for understanding FMF pathogenesis.