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Familial Mediterranean fever


Other Names for this Disease

  • Benign paroxysmal peritonitis
  • Familial paroxysmal polyserositis
  • FMF
  • Periodic disease
  • Periodic fever
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is familial Mediterranean fever (FMF)?

What are the signs and symptoms of Familial Mediterranean Fever?

How is Familial Mediterranean Fever (FMF) inherited?

Is genetic testing for Familial Mediterranean Fever available?

How is Familial Mediterranean Fever diagnosed?

How is familial Mediterranean fever (FMF) treated?

What is familial Mediterranean fever (FMF)?

Familial Mediterranean fever (FMF) is an inherited condition characterized by episodes of painful inflammation of the abdominal lining (peritonitis),  lining surrounding the lungs (pleurisy), and joints (arthralgia and occasionally arthritis). These episodes are often accompanied by fever and sometimes a characteristic ankle rash. The first episode usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Between attacks, people often do not have any symptoms. Without treatment, FMF can lead to kidney failure due to a buildup of certain protein deposits (amyloidosis). FMF is usually inherited in an autosomal recessive fashion and is caused by mutations in the MEFV gene.[1][2]
Last updated: 6/29/2012

What are the signs and symptoms of Familial Mediterranean Fever?

Familial Mediterranean fever (FMF) is characterized by relatively short, usually 1- to 3-day, episodes of fever accompanied by abdominal pain, chest pain, joint pain, pelvic pain, muscle aches, and/or a skin rash.[3] The muscle pain is often confused with fibromyalgia and the joint pain is sometimes confused with gout. The pain symptoms are usually the result of inflammation in the lining of the abdomen, lungs, joints, heart, pelvis, and/or in the membrane that surrounds the brain and spinal cord.[1] Headaches and amyloidosis may also occur.[1] The majority of patients experience their first episode by age 20.[1] The frequency of such attacks is highly variable and the interval between attacks ranges from days to years.[1] The frequency and symptoms experienced during an attack may also change over time.[1] People tend to be symptom-free between attacks.[3]
Last updated: 10/9/2013

How is Familial Mediterranean Fever (FMF) inherited?

FMF is almost always inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[2] As many as 1 in 5 people of Sephardic (non-Ashkenazi) Jewish, Armenian, Arab and Turkish heritage have one mutant copy of the gene and are therefore carriers of FMF, which means they carry the mutant gene but do not suffer from FMF themselves.[1] 

In rare cases, this condition appears to be inherited in an autosomal dominant pattern, in which one copy of the altered gene in each cell is sufficient to cause the disorder and affected individuals often inherit the mutation from one affected parent. However, there are other possible explanations of this apparent pattern. A gene mutation that occurs frequently in a population may result in a disorder with autosomal recessive inheritance appearing in multiple generations in a family, a pattern that mimics autosomal dominant inheritance. If one parent has familial Mediterranean fever (with two mutations in the MEFV gene) and the other parent is an unaffected carrier (with one mutation in the MEFV gene), it may appear as if the affected child inherited the disorder only from the affected parent. This appearance of autosomal dominant inheritance when the pattern is actually autosomal recessive is called pseudodominance.[2]
Last updated: 7/20/2011

Is genetic testing for Familial Mediterranean Fever available?

GeneTests lists the names of laboratories that are performing genetic testing for FMF. To view the contact information for the clinical laboratories conducting testing, click here
Last updated: 7/20/2011

How is Familial Mediterranean Fever diagnosed?

In making a diagnosis of FMF, doctors take all of these factors into account [1]:
  • Whether the person has the clinical symptoms common for the disease and whether the symptoms are recurrent.
  • How he or she responds to colchicine treatment.
  • Usually a positive family history in people of Middle Eastern ancestry.
  • The results of genetic testing.

Also helpful in establishing a correct diagnosis of FMF is the person's ancestry. Testing for the following can also be helpful:[1]
  • Elevated white blood cell count, which is an indication of an immune response.
  • Elevated erythrocyte sedimentation rate (ESR), which is an indication of an inflammatory response.
  • Elevated plasma fibrinogen, which helps stop bleeding. An elevated amount would indicate that something might be wrong with this mechanism.
  • Elevated serum haptoglobin, which would indicate that red blood cells are being destroyed, a common occurrence in rheumatic diseases, such as FMF.
  • Elevated C-reactive protein, which is a special type of protein, produced by the liver, that is only present during episodes of acute inflammation.
  • Elevated albumin in the urine, which is demonstrated by urinalysis. The presence of the protein albumin in the urine can be a symptom of kidney disease, along with microscopic hematuria (very small - microscopic - amounts of blood or blood cells in the urine), during attacks.
Last updated: 6/13/2011

How is familial Mediterranean fever (FMF) treated?

Currently, there is no known cure for FMF. Physicians can only treat the symptoms of the disease.[1]

A common therapy for FMF is daily use of the drug colchicine, a medicine that reduces inflammation. Colchicine is given orally, 1-2 mg/day in adults. Children may need 0.5-1 mg/day according to age and weight. Many people require colchicine for life.[4] This therapy has been successful in preventing attacks of fever in 75 percent of those who take the drug regularly. Over 90 percent of patients demonstrate a marked improvement. Even if colchicine does not prevent the fever attacks, it does prevent the amyloidosis. However, compliance in taking colchicine every day is very important. If a person stops taking the drug, an attack can occur within a few days.[1] Complications of colchicine use can also occur and include muscle weakness (myopathy) and a toxic epidermal necrolysis-like reaction.[4]

Since the gene that causes FMF codes for the protein pyrin, researchers hope that by studying how this protein works they will ultimately develop improved treatments for FMF, and possibly for other conditions involving excess inflammation.[1]
Last updated: 1/19/2012

References
  1. Learning about Familial Mediterranean Fever. NHGRI Web site. July 2010; http://www.genome.gov/12510679. Accessed 1/19/2012.
  2. Familial Mediterranean Fever. Genetics Home Reference (GHR). September 2008; http://ghr.nlm.nih.gov/condition=familialmediterraneanfever. Accessed 1/19/2012.
  3. Tran M and Spencer FA. Thromboepidemiology: Identifying patients with heritable risk for thrombin-mediated thromboembolic events. American Heart Journal. 2005;
  4. Shohat M, Halpern GJ. Familial Mediterranean Fever. GeneReviews. April 2009; http://www.ncbi.nlm.nih.gov/books/NBK1227/. Accessed 1/19/2012.


Other Names for this Disease
  • Benign paroxysmal peritonitis
  • Familial paroxysmal polyserositis
  • FMF
  • Periodic disease
  • Periodic fever
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.