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Diseases

Genetic and Rare Diseases Information Center (GARD)

Familial Mediterranean fever


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

Your Question

I have had symptoms of Familial Mediterranean Fever since an early age. I was diagnosed through a gene test a few years ago. I would like to learn about the disease, including the prognosis of the condition and available support.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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.[1] 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.[2] Treatment for FMF often involves use of a medication called colchicine.[3]
Last updated: 12/8/2015

What are the signs and symptoms of familial Mediterranean fever (FMF)?

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.[4] 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. Headaches and amyloidosis may also occur. The majority of people with FMF experience their first episode by age 20. 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. People tend to be symptom-free between attacks.[4]
Last updated: 10/9/2013

How is familial Mediterranean fever (FMF) inherited?

FMF is almost always inherited in an autosomal recessive manner.[2] 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 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. As many as 1 in 5 people of Sephardic (non-Ashkenazi) Jewish, Armenian, Arab and Turkish heritage are carriers for FMF.[1] 

In rare cases, this condition appears to be inherited in an autosomal dominant manner.[2] This means that to be affected, a person only needs a change (mutation) in 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. These cases occur in people with no history of the disorder in their family. A person with FMF inherited in an autosomal dominant manner has a 50% chance with each pregnancy of passing along the altered gene to his or her child.

In some cases, FMF may appear to be autosomal dominant when it is actually autosomal recessive. This phenomenon is called pseudodominance. This may happen in families if one parent is an unaffected, unknown carrier (with 1 mutation) and the other parent is affected (with 2 mutations). It may appear that an affected child inherited FMF from only the affected parent, when in fact he/she inherited one mutation from each parent.[2]
Last updated: 12/8/2015

How is familial Mediterranean fever (FMF) 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: 12/8/2015

How might familial Mediterranean fever (FMF) be 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. Many people require colchicine for life.[5] This therapy has been successful in preventing attacks of fever in 75 percent of those who take the drug regularly. Over 90 percent of people with FMF 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.[5]

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: 12/8/2015

What is the long-term outlook for people with familial Mediterranean fever (FMF)?

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 age 50 years.[6]

Last updated: 12/8/2015

How can I contact others with familial Mediterranean fever?

You can view our Organizations page for this condition to find advocacy organizations that provide information and supportive resources. They may be able to assist you in connecting with other people with familial Mediterranean fever.
Last updated: 6/13/2011

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