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[Familial Mediterranean fever – an important disease in a globalised world]
Per Wekell1, Anna Karlsson2, Anders Fasth3
1NU-sjukvården - Barn- och ungdomskliniken Uddevalla, Sweden NU-sjukvården - Barn- och ungdomskliniken Uddevalla, Sweden.
Abstract:
Familial Mediterranean fever - an important disease in a globalised world Familial Mediterranean fever (FMF) is characterized by recurrent febrile attacks during 1/2-3 days associated with peritonitis, pleuritis and arthritis. FMF is the most common monogenic autoinflammatory disease in the world, with over 100 000 affected individuals. It is particularly common in individuals with an origin in the eastern Mediterranean Basin, where the disease has a prevalence of 100-200 per 100 000. The gene for FMF (MEFV) was identified in 1997 with an autosomal recessive inheritance; however, a significant proportion (≈25%) of clinical patients lack two mutations. MEFV codes for the protein pyrin, whose exact function still needs to be defined. The most serious complication of FMF is amyloid A amyloidosis, in particular renal amyloidosis. FMF is efficiently treated with daily doses of colchicine resulting in an almost normal life expectancy and amyloidosis confined to non-compliant patients. In today's globalized world we need to adapt to a new context that includes inherited conditions, which have historically been uncommon in our part of the world. One of these conditions is FMF, that should primarily be suspected in individuals with an origin in the eastern Mediterranean Basin and recurrent attacks of fever.
Insights
Familial Mediterranean fever (FMF) is a common genetic autoinflammatory disease. Early diagnosis and colchicine treatment are crucial for preventing serious complications like amyloidosis and ensuring a near-normal life expectancy.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Familial Mediterranean fever (FMF) is the most prevalent monogenic autoinflammatory disease globally.
- Characterized by recurrent febrile episodes with serositis, FMF affects over 100,000 individuals worldwide.
- Prevalence is highest in those of Eastern Mediterranean origin, with rates of 100-200 per 100,000.
Purpose of the Study:
- To highlight the significance of FMF in a globalized context.
- To emphasize the importance of recognizing FMF in individuals with relevant ancestry and symptoms.
- To underscore the effectiveness of current treatment strategies.
Main Methods:
- Review of existing literature on FMF genetics, clinical presentation, and management.
- Analysis of FMF prevalence data in diverse populations.
- Discussion of the MEFV gene and pyrin protein function.
Main Results:
- The MEFV gene, identified in 1997, follows autosomal recessive inheritance, though some patients have atypical genotypes.
- Amyloid A amyloidosis, particularly renal involvement, is the most severe complication.
- Colchicine treatment is highly effective, leading to normal life expectancy and preventing amyloidosis in compliant patients.
Conclusions:
- FMF is an important inherited condition requiring increased awareness globally.
- Suspected in individuals from the Eastern Mediterranean Basin presenting with recurrent fevers.
- Effective management with colchicine significantly improves patient outcomes and prevents long-term complications.
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