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[Familial Mediterranean fever]
S Georgin-Lavialle1, V Hentgen2, K Stankovic Stojanovic1
1Service de médecine interne, centre de référence des maladies auto-inflammatoires et de l'amylose inflammatoire (CEREMAIA), hôpital Tenon, 4, rue de la Chine, 75020 Paris, France; Inserm UMRS_933, hôpital Trousseau, 26, avenue du Dr-Arnold-Netter, 75012 Paris, France; Université Paris 6, Pierre-et-Marie-Curie (UPMC), Assistance publique-Hôpitaux de Paris (AP-HP), Paris, France.
Abstract:
Familial Mediterranean Fever (FMF) is the most frequent monogenic auto-inflammatory disease. FMF is an autosomal recessive disease, which affects populations from Mediterranean origin and is associated with MEFV gene mutations encoding for the protein pyrin. Pyrin activation enhances the secretion of interleukin 1 by myelo-monocytic cells. Main features of the disease are acute attacks of serositis mainly located on the abdomen, less frequently on chest and joints, accompanied by fever and biological inflammatory markers elevation. Usually attacks last 1 to 3 days and spontaneously stop. A daily oral colchicine intake of 1 to 2mg/day is able to prevent attack's occurrence, frequency, intensity and duration among most patients. Colchicine is also able to prevent the development of inflammatory amyloidosis, the most severe complication of FMF. This state of the art article will focus on the diagnosis of FMF, the treatment and an update on the pathophysiology including the recent described dominant form of MEFV-associated new auto-inflammatory diseases.
Insights
Familial Mediterranean Fever (FMF) is a common auto-inflammatory disease caused by MEFV gene mutations. Colchicine effectively prevents FMF attacks and severe complications like amyloidosis.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Familial Mediterranean Fever (FMF) is the most prevalent monogenic auto-inflammatory disorder.
- It is an autosomal recessive condition linked to MEFV gene mutations impacting pyrin protein function.
- Pyrin activation leads to increased interleukin-1 secretion by immune cells.
Purpose of the Study:
- To provide a comprehensive overview of Familial Mediterranean Fever (FMF).
- To discuss the diagnosis, treatment, and pathophysiology of FMF.
- To include recent findings on dominant forms of MEFV-associated auto-inflammatory diseases.
Main Methods:
- This article is a state-of-the-art review.
- It synthesizes current knowledge on FMF pathophysiology, diagnosis, and treatment.
- It incorporates recent genetic findings related to MEFV mutations.
Main Results:
- FMF presents with recurrent attacks of serositis (abdomen, chest, joints) and fever.
- Attacks are typically short-lived (1-3 days) and self-limiting.
- Daily colchicine (1-2mg) is highly effective in preventing FMF attacks and amyloidosis.
Conclusions:
- Colchicine is the cornerstone treatment for FMF, preventing disease flares and severe complications.
- Understanding MEFV gene mutations is crucial for FMF diagnosis and management.
- Emerging research highlights new auto-inflammatory conditions associated with MEFV, including dominant forms.
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