Overview
Familial Mediterranean fever (FMF), also known as recurrent polyserositis or periodic disease, is the most common hereditary autoinflammatory disorder. It is caused by mutations in the MEFV gene, which encodes the protein pyrin (also called marenostrin), a key regulator of the innate immune system and inflammasome activation. FMF predominantly affects populations of Mediterranean origin, including individuals of Armenian, Turkish, Arab, Jewish (particularly Sephardic and Iraqi), and Italian descent. The disease is characterized by recurrent, self-limited episodes (attacks) of fever and painful inflammation of serous membranes, typically lasting 12 to 72 hours. The most commonly affected body systems include the peritoneum (causing severe abdominal pain mimicking an acute abdomen), the pleura (causing chest pain and difficulty breathing), and the joints (causing acute monoarthritis, most often of the knee, ankle, or hip). Some patients also experience an erysipelas-like skin rash, typically on the lower legs. Attacks may be triggered by stress, physical exertion, infections, or menstruation. Between episodes, patients are generally symptom-free. The most serious long-term complication of untreated FMF is secondary (AA) amyloidosis, which results from chronic inflammation and can lead to progressive kidney failure (nephrotic syndrome and renal failure). The mainstay of treatment is daily oral colchicine, which is highly effective in preventing attacks and, critically, in preventing the development of amyloidosis. Colchicine reduces the frequency and severity of attacks in approximately 90-95% of patients. For patients who are resistant or intolerant to colchicine, interleukin-1 (IL-1) inhibitors such as canakinumab and anakinra have been approved or used off-label with significant benefit. Early diagnosis and lifelong treatment are essential to prevent organ damage and maintain quality of life.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
10 eventsBursa City Hospital
University of Colorado, Denver — NA
Kangbuk Samsung Hospital — NA
Prof. Dr. Cemil Tascıoglu Education and Research Hospital Organization — NA
Sixth Affiliated Hospital, Sun Yat-sen University — NA
Cairo University
Shenyang Medical College — NA
Istanbul University
University of Washington — PHASE4
Swedish Orphan Biovitrum — PHASE4
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
2 availableILARIS
Indicated for treatment of Familial Mediterranean Fever (FMF) in adult and pediatric patients
Colcrys
Treatment of familial Mediterranean fever
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Familial Mediterranean fever.
Community
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Start the conversation →Latest news about Familial Mediterranean fever
Disease timeline:
New recruiting trial: HighCycle Study: Effect of Acetazolamide on Sleep Disordered Breathing in Women Compared to Men
A new clinical trial is recruiting patients for Familial Mediterranean fever
New recruiting trial: Periodic Presumptive Treatment vs. doxyPEP for STI Control in Kenyan MSM
A new clinical trial is recruiting patients for Familial Mediterranean fever
New recruiting trial: Fecal Microbiota Transplantation in Pediatric Crohn's Disease
A new clinical trial is recruiting patients for Familial Mediterranean fever
New recruiting trial: Periodic Continuous Glucose Monitoring in Patients With Type 2 Diabetes
A new clinical trial is recruiting patients for Familial Mediterranean fever
New recruiting trial: Continuous Glucose Monitoring in Non-Insulin Treated Type 2 Diabetes: Continuous vs. Periodic Use
A new clinical trial is recruiting patients for Familial Mediterranean fever
New recruiting trial: Effects of High-Intensity, Low-Frequency Periodic rTMS Over the Right Dorsolateral Prefrontal Cortex on Cardiac Autonomic Regulation in Women With Recurrent Pregnancy Loss and Anxiety: A Proof-of-Concept rTMS-ECG Clinical Trial ( NEURO-CARD)
A new clinical trial is recruiting patients for Familial Mediterranean fever
New recruiting trial: Applying pGz in Mitochondrial Disease
A new clinical trial is recruiting patients for Familial Mediterranean fever
New recruiting trial: CEReBral AutorEgulation in Non-cardiac SuRgery and Relationship to Postoperative DeliriUm State
A new clinical trial is recruiting patients for Familial Mediterranean fever
New recruiting trial: HighCycle Study: Effect of High Altitude on Sleep Disordered Breathing in Women Related to Their Menstrual Cycle Phase
A new clinical trial is recruiting patients for Familial Mediterranean fever
New recruiting trial: Effect of Acute Exercise on Sleep Patterns in Patients With PLMS, Using a Wearable Device, Compared With a Control Group ( SONEX )
A new clinical trial is recruiting patients for Familial Mediterranean fever
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Familial Mediterranean fever
What is Familial Mediterranean fever?
Familial Mediterranean fever (FMF), also known as recurrent polyserositis or periodic disease, is the most common hereditary autoinflammatory disorder. It is caused by mutations in the MEFV gene, which encodes the protein pyrin (also called marenostrin), a key regulator of the innate immune system and inflammasome activation. FMF predominantly affects populations of Mediterranean origin, including individuals of Armenian, Turkish, Arab, Jewish (particularly Sephardic and Iraqi), and Italian descent. The disease is characterized by recurrent, self-limited episodes (attacks) of fever and painfu
How is Familial Mediterranean fever inherited?
Familial Mediterranean fever follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial Mediterranean fever typically begin?
Typical onset of Familial Mediterranean fever is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Familial Mediterranean fever?
Yes — 12 recruiting clinical trials are currently listed for Familial Mediterranean fever on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Familial Mediterranean fever?
25 specialists and care centers treating Familial Mediterranean fever are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.