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Familial Mediterranean fever

Familial Mediterranean fever is a disorder passed down through families (inherited), which involves repeated fevers and inflammation that often affects the lining of the abdomen, chest, or joints.

Alternative Names

Familial paroxysmal polyserositis; Periodic peritonitis; Recurrent polyserositis; Benign paroxysmal peritonitis; Periodic disease; Periodic fever; FMF

Causes, incidence, and risk factors

Familial Mediterranean fever is most often caused by a mutation in the MEFV gene. This gene creates proteins involved in inflammation.

The condition usually affects people of Mediterranean ancestry, especially non-Ashkenazi (Sephardic) Jews, Armenians, and Arabs, although people from other ethnic groups may also be affected.

This disease is very rare. Risk factors include a family history of familial Mediterranean fever or having Mediterranean ancestry.

Symptoms

Symptoms usually begin ages 5 and 15. Inflammation in the lining of the abdominal cavity, chest cavity, skin, or joints occurs, along with high fevers that usually peak in 12 to 24 hours. Attacks may vary in severity of symptoms. Patients are usually symptom-free between attacks.

Symptoms may include repeated episoders of:

  • Abdominal pain
  • Chest pain that is sharp and gets worse when taking a breath
  • Fever or alternating chills and fever
  • joint pain
  • Skin lesions that are red and swollen and range from 5 - 20 cm in diameter

Signs and tests

There is no specific test to diagnose this disease. If genetic testing shows you have the mutation known to be associated with this condition, and your symptoms match a typical pattern, the diagnosis is nearly certain. Ruling out other possible diseases using laboratory tests or x-rays will help determine the diagnosis.

Certain blood tests may be higher than normal when done during an attack. Tests may include:

Treatment

The goal of treatment for familial Mediterranean fever is to control symptoms. Colchicine, a medicine that reduces inflammation, may help during an attack and may prevent further attacks. It can also help prevent a serious complication called systemic amyloidosis.

Expectations (prognosis)

There is no known cure for familial Mediterranean fever. Most people continue to have attacks, but the number and severity of attacks is different from person to person.

Complications

A serious complication is amyloidosis , a condition in which abnormal proteins build up in the organs and joints.

Calling your health care provider

Call your health care provider if you or your child develop symptoms of this condition.

References

Kastner DL. The systemic autoinflammatory diseases. In: Goldman L, Schafer AI, eds. Cecil Medicine. 24th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 269.

Updated: 8/15/2012

David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine. Jatin M. Vyas, MD, PhD, Assistant Professor in Medicine, Harvard Medical School; Assistant in Medicine, Division of Infectious Disease, Department of Medicine, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.


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