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Published on: September 20, 2018
[Familial Mediterranean fever - clinical picture, diagnosis and treatment]
Abstract:
Familial mediterranean fever (FMF) is the most prevalent genetically determined autoinflammatory disease. FMF significantly decreases the quality of life and limits life expectancy due to the development of amyloidosis in affected individuals. Prevalence of FMF is highest in the south-eastern Mediterraneans. In other parts of the world, its occurance is often restricted to high-risk ethnic goups. In Central Europe, experience with FMF is scarse. As for Slovakia, we have reported the first cases of FMF in ethnic Slovaks only recently. Along with their complicated fates, this has lead us to compile a comprehensive overview of the clinical picture, diagnosis and treatment of this elusive disease. Hereby we hope to be able to promote the awareness about this disease and possibly aid the diagnosis in new patients.
Insights
Familial Mediterranean Fever (FMF), a genetic autoinflammatory disease, severely impacts quality of life and lifespan due to amyloidosis. This overview aims to increase FMF awareness and aid diagnosis, especially in regions like Central Europe with limited experience.
Area of Science:
- Genetics and Immunology
- Rheumatology
- Internal Medicine
Background:
- Familial Mediterranean Fever (FMF) is the most common autoinflammatory disorder, characterized by recurrent inflammatory episodes.
- FMF significantly impairs quality of life and survival, primarily due to the risk of amyloidosis.
- While prevalent in Mediterranean populations, FMF is less understood in Central Europe, with limited reported cases in ethnic Slovaks.
Purpose of the Study:
- To provide a comprehensive overview of Familial Mediterranean Fever (FMF).
- To enhance awareness and diagnostic capabilities for FMF, particularly in Central European regions.
- To detail the clinical presentation, diagnostic approaches, and treatment strategies for FMF.
Main Methods:
- Literature review and case series analysis.
- Compilation of clinical data on FMF patients.
- Synthesis of current diagnostic criteria and therapeutic guidelines.
Main Results:
- FMF diagnosis and management can be challenging due to its varied presentation and rarity in certain populations.
- Early diagnosis and appropriate treatment are crucial to prevent severe complications like amyloidosis.
- Recent case reports highlight the occurrence of FMF in previously underrepresented ethnic groups.
Conclusions:
- Increased awareness and education are vital for timely FMF diagnosis and management.
- A multidisciplinary approach is recommended for optimal patient care.
- Further research is needed to understand FMF prevalence and impact in diverse populations.
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