Familial Mediterranean Fever Overview
Learn About Familial Mediterranean Fever
Familial Mediterranean fever (FMF) is a rare disorder that may be passed down through families (inherited). It involves repeated fevers and inflammation that often affects the lining of the abdomen, chest, or joints.
Familial paroxysmal polyserositis; Periodic peritonitis; Recurrent polyserositis; Benign paroxysmal peritonitis; Periodic disease; Periodic fever; FMF
FMF is most often caused by a variation in a gene named MEFV. This gene creates a protein involved in regulating inflammation. The disease usually appears only in people who received two copies of the variant gene, one from each parent. This is called autosomal recessive inheritance or an autosomal recessive condition.
FMF most often affects people of Mediterranean ancestry. These include non-Ashkenazi (Sephardic) Jews, Armenians, and Arabs. People from other ethnic groups can also be affected.
Symptoms usually begin between ages 5 and 15. Inflammation in the lining of the abdominal cavity, chest cavity, skin, or joints occurs along with high fevers that usually peak in 12 to 24 hours. Attacks may vary in severity of symptoms. People are usually symptom-free between attacks.
Symptoms may include repeated episodes of:
- Abdominal pain
- Chest pain that is sharp and gets worse when taking a breath
- Fever or alternating chills and fever
- Joint pain
- Skin sores (lesions) that are red and swollen and range from 5 to 20 centimeters (cm) in diameter
The goal of treatment for FMF is to regulate symptoms. Colchicine, a medicine that reduces inflammation, may help during an attack and may prevent further attacks. It can also help prevent a serious complication called systemic amyloidosis, which is common in people with FMF.
Nonsteroidal anti-inflammatory drugs (NSAIDs) may be used to treat fever and pain.
Seza Ozen practices in Ankara, Turkey. Ozen and is rated as an Elite expert by MediFind in the treatment of Familial Mediterranean Fever. Their top areas of expertise are Familial Mediterranean Fever, Polyarteritis Nodosa, Mevalonate Kinase Deficiency, Bone Marrow Aspiration, and Tissue Biopsy.
Serdal Ugurlu practices in Istanbul, Turkey. Ugurlu and is rated as an Elite expert by MediFind in the treatment of Familial Mediterranean Fever. Their top areas of expertise are Familial Mediterranean Fever, Behcet Disease, Uveitis, Vasculitis, and Appendectomy.
Huri Ozdogan practices in Istanbul, Turkey. Ozdogan and is rated as an Elite expert by MediFind in the treatment of Familial Mediterranean Fever. Their top areas of expertise are Familial Mediterranean Fever, Primary Amyloidosis, Mevalonate Kinase Deficiency, Adult Still's Disease, and Appendectomy.
There is no known cure for FMF. Most people continue to have attacks, but the number and severity of attacks is different from person to person.
Amyloidosis may lead to kidney damage or not being able to absorb nutrients from food (malabsorption). Fertility problems in women and men and arthritis are also complications.
Contact your health care provider if you or your child develops symptoms of this condition.
Summary: This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related diseases. The following individuals may be eligible for this natural history study: 1) patients with known or suspected familial Mediterranean fever, TRAPS, hyper-IgD syndrome or related disorders; 2) relat...
Summary: The purpose of this study is to assess safety and efficacy of the long-term treatment with RPH-104 at doses of 80 or 160 mg once every 2 weeks (q2w) in patients with familial Mediterranean fever (FMF) with colchicine resistance or intolerance (i.e. colchicine resistant, crFMF), who completed the core study, during which they received at least one dose of RPH-104 (i.e. study patient population).
Published Date: August 18, 2024
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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