Familial Mediterranean Fever
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Familial Mediterranean Fever is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Familial Mediterranean fever (FMF) is an inherited autoinflammatory disease characterized by recurrent episodes (attacks) of fever and acute inflammation of the membranes lining the abdomen, joints, and lungs. In some cases, affected individuals may develop skin rashes (erysipelas like erythema) affecting the lower legs. Less often, inflammation of the membrane lining the heart or covering the brain and spinal cord may occur. Some individuals may develop a serious condition known as amyloidosis, in which certain proteins called amyloid accumulates in various tissues of the body. In FMF, amyloid accumulates in the kidneys (renal amyloidosis) where it can impair kidney function potentially result in life-threatening complications such as kidney failure. The specific symptoms and severity of FMF are highly variable. Some individuals develop amyloidosis, but none of the other symptoms associated with FMF. These cases are sometimes referred to as FMF type 2. FMF is caused by mutations of the pyrin (MEFV) gene and is inherited as an autosomal recessive trait.
FMF is classified as an autoinflammatory syndrome. Autoinflammatory syndromes are a group of disorders characterized by recurrent episodes of inflammation due to an abnormality of the innate immune system. They are not the same as autoimmune syndromes, in which the adaptive immune system malfunctions and mistakenly attacks healthy tissue. FMF is the most common autoinflammatory syndrome. It is also classified as a hereditary periodic fever syndrome.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
P.O. Box 590354
San Francisco, CA 94118
International Society for Systemic Auto-Inflammatory Diseases
Unité médicale des maladies auto-inflammatoires (Reference Center)
Laboratoire de génétique
Hôpital Arnaud de Villeneuve
Montpellier Cedex 5
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Last Updated: 7/17/2012
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