Disease Directory Familial Mediterranean Fever
Immune

Familial Mediterranean Fever

Also known as: FMF, MEF, recurrent polyserositis, MEFV mutation

Prevalence

1 in 200-1,000 in high-risk Mediterranean populations; 1 in 100,000 globally

Onset

Childhood, typically before age 20

Type

Autoinflammatory periodic fever syndrome

Gene

MEFV

About Familial Mediterranean Fever

Familial Mediterranean Fever is the most common hereditary periodic fever syndrome, caused by gain-of-function mutations in MEFV encoding pyrin, a protein integral to inflammasome regulation, resulting in episodic uncontrolled interleukin-1 beta-mediated inflammation. Characteristic attacks of fever lasting 1-3 days are accompanied by serositis (peritoneal, pleural, or synovial), and attacks recur unpredictably throughout life. The most serious long-term complication is AA amyloidosis from chronic subclinical inflammation, which can lead to renal failure if colchicine therapy is insufficient or delayed.

Common Clinical Features

Recurrent febrile episodes lasting 1-3 days Severe abdominal pain from sterile peritonitis Pleuritis causing chest pain Acute arthritis (usually monoarticular, lower limb) Erysipelas-like erythema on the lower legs Elevated acute-phase reactants (CRP, SAA) between attacks AA amyloidosis with proteinuria in untreated or refractory cases

Clinical Trial Eligibility Tips

What to know before applying to Familial Mediterranean Fever trials.

Colchicine resistance or intolerance is the primary eligibility gate for IL-1 inhibitor trials (anakinra, canakinumab, rilonacept); document colchicine dose, duration, and reason for inadequate response

Renal function and 24-hour urine protein are screened in most trials to assess amyloid burden; have current nephrology assessments available

Attack frequency documentation (diary records showing at least 4-6 attacks per year) is typically required to confirm disease activity for interventional trial enrollment

Patient Resources

Patient Organization

FMF & AID Global Association

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Natural History Registry

Eurofever Registry

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Orphanet

European reference resource for rare diseases (ORPHA:342)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Familial Mediterranean Fever trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Familial Mediterranean Fever. Updated daily.

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