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Don’t fight Familial Mediterranean fever alone.
Find your community on the free RareGuru App.Familial Mediterranean fever (FMF) is an inherited condition characterized by episodes of painful inflammation of the abdominal lining (peritonitis); the lining surrounding the lungs ( pleurisy); and the joints ( arthralgia and occasionally arthritis). These episodes are often accompanied by fever, and sometimes, a characteristic ankle rash. The first episode usually occurs during childhood or the teenage years. In some cases, the first episode occurs much later in life. Between episodes, people often do not have any symptoms. FMF usually is inherited in an autosomal recessive manner, caused by mutations in the MEFV gene. Treatment for FMF aims to control symptoms and often involves the use of a medication called colchicine. Without treatment, FMF can lead to kidney failure due to a buildup of certain protein deposits (amyloidosis).
Source: GARD Last updated on 05-01-20
Familial Mediterranean fever (FMF) is characterized by recurrent episodes of fever accompanied by pain in the abdomen, chest, joints, pelvis, and/or muscles. Episodes may also be associated with a skin rash or headache, and rarely, pericarditis and meningitis. Amyloidosis, which can lead to kidney failure, is the most severe complication which can occur if FMF is not treated. In some cases, amyloidosis is the first sign of the condition in a person who otherwise has no symptoms.
Episodes usually last for about one to three days, and the time between episodes can vary from days to years. The first episode usually occurs during childhood or the teenage years. In some cases, the first episode occurs much later in life. The majority of people with FMF experience their first episode by age 20. People tend to be symptom-free between episodes.
Last updated on 05-01-20
Familial Mediterranean fever (FMF) usually is caused by changes in both copies of a person's MEFV gene. Changes in genes that are responsible for causing disease are also called pathogenic variants, or mutations.
Pathogenic variants are usually inherited from one or both parents. There is nothing either parent can do before or during a pregnancy to cause them. Over 80 different pathogenic variants in the MEFV gene are known to cause FMF.
The MEFV gene normally provides instructions for making a protein called pyrin, which is found in white blood cells called granulocytes. It is thought that this protein plays a role in keeping inflammation under control. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease, and pyrin may stop or slow down the inflammatory process once it is no longer needed.
When the MEFV gene is mutated and pyrin is not formed correctly or working properly, inflammation is not regulated as it should be. This is thought to result in the painful inflammation, rashes and fever that characterize FMF.
Last updated on 05-01-20
In making a diagnosis of FMF, doctors take several factors into account:
Testing for the following may also be helpful to make a diagnosis of FMF:
Last updated on 05-01-20
FMF is almost always inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a:
As many as 1 in 5 people of Sephardic Jewish, Armenian, Arab and Turkish heritage is a carrier of FMF.
In rare cases, FMF appears to be inherited in an autosomal dominant manner. This means that to be affected, a person needs to have a mutation in only one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. A person with autosomal dominant FMF has a 50% chance to pass the mutated gene on to each child.
In some cases, FMF may appear to be autosomal dominant when it is actually autosomal recessive. This phenomenon is called pseudodominance.
Last updated on 05-01-20
People with FMF who are compliant with daily colchicine can probably expect to have a normal lifespan, if colchicine is started before proteinuria develops. Even with amyloidosis, the use of colchicine, dialysis, and kidney transplantation should extend a patient's life beyond 50 years of age.
Last updated on 05-01-20
The goal of treatment for familial Mediterranean fever (FMF) is to control symptoms because there is no cure for the condition.
Treatment of an acute episode may include:
Depending on disease severity or the presence of specific mutations, lifelong treatment with colchicine may be needed. Colchicine prevents inflammatory attacks and the deposition of amyloid. Those who are only mildly affected (with infrequent inflammatory attacks) may either be treated with colchicine or be monitored every six months for the presence of protein in the urine (proteinuria). Others may only be treated with colchicine if they develop severe inflammatory episodes and/or proteinuria as a result of amyloidosis. Those who are unresponsive to oral colchicine may respond to intravenous colchicine, or one of several other medications. Colchicine is not effective as treatment for an acute FMF attack.
Last updated on 05-01-20
Note, these links are external searches against the National Laboratory of Medicine's drug database. You may need to adjust the search if there are no results found.
| Drug Name | Generic Name |
|---|---|
| Ilaris | canakinumab |
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