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.
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.
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Genetic and Rare Diseases (GARD) Information Center
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International Society for Systemic Auto-Inflammatory Diseases
- Website: http://fmf.igh.cnrs.fr/ISSAID/
March of Dimes
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 7/14/2015
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