Familial Mediterranean fever, review of the literature

Area of Science:

• Genetics
• Immunology
• Rheumatology

Background:

• Familial Mediterranean fever (FMF) is the most prevalent monogenic periodic fever syndrome.
• It is characterized by recurrent episodes of fever, serositis, arthritis, and potential renal complications.
• The MEFV gene, encoding the pyrin protein, is responsible and inherited in an autosomal recessive manner.

Purpose of the Study:

• To review the current understanding of FMF pathogenesis, genetics, and treatment.
• To highlight recent advances in molecular genetics and their impact on FMF research.
• To discuss the evolving landscape of FMF diagnosis and therapeutic strategies.

Main Methods:

• Review of molecular genetics and pathogenesis studies related to FMF.
• Analysis of clinical diagnostic criteria and the role of genetic testing.
• Examination of treatment outcomes for colchicine and emerging therapies.

Main Results:

• The MEFV gene mutations lead to pyrin dysfunction, impacting the innate immune system and interleukin-1 production.
• FMF pathogenesis is complex, with ongoing debate regarding the exact mechanism of pyrin mutations (loss-of-function vs. gain-of-function).
• Colchicine remains the primary treatment, while interleukin-1 inhibitors show promise.

Conclusions:

• FMF diagnosis is primarily clinical, supported by genetic testing.
• Understanding FMF pathogenesis is crucial for developing targeted therapies.
• Advances in genetic understanding have paved the way for novel treatments like IL-1 inhibitors.