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Familial Mediterranean Fever in Childhood
Rabia Miray Kisla Ekinci1, Elif Kilic Konte2, Nergis Akay2
1Department of Pediatric Rheumatology, Adana City Training and Research Hospital, Adana, Türkiye.
Abstract:
Familial Mediterranean fever (FMF) is the most prevalent monogenic autoinflammatory disorder, characterized by recurrent fever and serositis. It primarily affects individuals of Mediterranean descent, including Arabs, Armenians, Turks, and Jews. The Mediterranean fever (MEFV) gene, responsible for FMF, was discovered in 1997. Biallelic pathogenic variants lead to excessive activation of the pyrin inflammasome, resulting in inflammation. Clinical manifestations include recurrent fever, abdominal pain, and joint involvement, with attacks typically lasting 12-72 hours. Diagnosis relies on clinical criteria and is supported by genetic testing. Colchicine is the primary treatment to reduce attack frequency and prevent the complications like renal amyloidosis. Despite advancements in understanding FMF, including its genetic basis and treatment options, challenges remain in distinguishing it from other autoinflammatory diseases. Co-existing conditions such as juvenile idiopathic arthritis and inflammatory bowel disease are common among FMF patients. Ongoing research should aim to clarify the development of the disease, enhance diagnostic accuracy, and address its clinical presentation and genetic variability, with a focus on identifying new genetic mutations and epigenetic factors that contribute to its pathogenesis.
Insights
Familial Mediterranean fever (FMF) is a common autoinflammatory disease caused by MEFV gene variants. Colchicine treats FMF, but research continues to improve diagnosis and understanding of its genetic basis.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disorder.
- It is characterized by recurrent fever and serositis, primarily affecting Mediterranean populations.
- Pathogenic variants in the MEFV gene cause excessive pyrin inflammasome activation, leading to inflammation.
Purpose of the Study:
- To summarize the current understanding of Familial Mediterranean Fever (FMF).
- To highlight diagnostic criteria, treatment options, and ongoing research challenges.
- To emphasize the need for further research into FMF pathogenesis and genetic variability.
Main Methods:
- Review of existing literature on FMF.
- Analysis of genetic basis and clinical manifestations.
- Evaluation of current diagnostic and treatment strategies.
Main Results:
- FMF is linked to MEFV gene variants causing pyrin inflammasome overactivation.
- Clinical symptoms include fever, abdominal pain, and joint issues; attacks last 12-72 hours.
- Colchicine is the standard treatment, preventing complications like renal amyloidosis.
Conclusions:
- Accurate diagnosis of FMF relies on clinical criteria and genetic testing.
- Challenges persist in differentiating FMF from other autoinflammatory diseases.
- Further research is crucial for understanding FMF pathogenesis, genetic factors, and improving patient outcomes.
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