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Familial Mediterranean Fever; Recent Advances, Future Prospectives
Micol Romano1,2, David Piskin2,3, Ovgu Kul Cinar4,5
1Pediatric Rheumatology, Schulich School of Medicine, Western University, London, ON N6A 3K7, Canada.
Abstract:
Familial Mediterranean Fever (FMF) is the prototype and most common autoinflammatory disease that is particularly frequent in populations originating from the Mediterranean basin. It is characterized by episodes of recurrent inflammation lasting 2-3 days. Colchicine is the mainstay therapy, which decreases the number of attacks and eventually prevents amyloidosis, the most worrisome complication of uncontrolled FMF. It is an autosomal recessive disease. The high rate of MEFV gene mutations in specific populations has been discussed as the result of an evolutionary advantage. Tel-Hashomer criteria were the first set of criteria primarily designed for adults. Recently, the Eurofever/PRINTO group has validated a new set of classification criteria for FMF, including clinical and genetic variables. Colchicine intolerance is an important problem and limits the ability to reach an effective dose. In these groups of patients, adding an alternative biological treatment (anti IL-1 agents) is recommended. Several tools such as FMF50, AIDAI, ADDI, ISSF and MASIF have been proposed to evaluate and quantify the disease activity and organ damage. Ongoing research should clarify the exact mechanisms causing FMF attacks and phenotypic variabilities between the patients; further translational research requires the implementation of proteomics and epigenetics signatures to elucidate the pathogenesis.
Insights
Familial Mediterranean Fever (FMF) is a common autoinflammatory disease. Treatment with colchicine is standard, but alternatives like anti-IL1 agents are used when it
Area of Science:
- Genetics and immunology
- Autoinflammatory diseases
- Molecular pathogenesis
Background:
- Familial Mediterranean Fever (FMF) is the most common autoinflammatory disorder.
- Characterized by recurrent inflammatory episodes, FMF is prevalent in Mediterranean populations.
- Amyloidosis is a severe complication of uncontrolled FMF.
Purpose of the Study:
- To summarize current understanding of FMF, including genetics, clinical features, and management.
- To highlight recent advancements in classification criteria and therapeutic strategies.
- To emphasize the need for further research into FMF pathogenesis and variability.
Main Methods:
- Review of existing literature on FMF.
- Analysis of genetic factors, clinical manifestations, and treatment outcomes.
- Evaluation of proposed diagnostic and disease activity assessment tools.
Main Results:
- FMF is an autosomal recessive condition with high MEFV gene mutation rates in certain populations.
- New Eurofever/PRINTO classification criteria incorporate clinical and genetic data.
- Colchicine is primary therapy, but anti-IL1 agents are crucial for colchicine-intolerant patients.
- Various tools (FMF50, AIDAI, ADDI, ISSF, MASIF) aid in quantifying disease activity and damage.
Conclusions:
- Updated classification criteria improve FMF diagnosis and management.
- Addressing colchicine intolerance with biological agents is vital.
- Further research using proteomics and epigenetics is needed to understand FMF mechanisms and variability.
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