Familial Mediterranean fever

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

Causes

FMF is most often caused by a mutation in a gene named MEFV. This gene creates a protein involved in controlling inflammation. The disease appears only in people who received two copies of the altered gene, one from each parent. This is called autosomal recessive inheritance or an autosomal recessive condition.

FMF most often affects people of Mediterranean ancestry. These include non-Ashkenazi (Sephardic) Jews, Armenians, and Arabs. People from other ethnic groups can also be affected.

Symptoms

Symptoms usually begin between 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. People are usually symptom-free between attacks.

Symptoms may include repeated episodes of:

• Abdominal pain

  Abdominal pain

  Abdominal pain is pain that you feel anywhere between your chest and groin. This is often referred to as the stomach region or belly.

  

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• Chest pain that is sharp and gets worse when taking a breath
• Fever or alternating chills and fever
• Joint pain
• Skin sores (lesions) that are red and swollen and range from 5 to 20 cm in diameter

Exams and Tests

If genetic testing shows that you have the MEFV gene mutation and your symptoms match the typical pattern, the diagnosis is nearly certain. Laboratory tests and x-rays or other imaging tests are used to rule out other possible diseases to help confirm the diagnosis.

x-rays

X-rays are a type of electromagnetic radiation, just like visible light. An x-ray machine sends individual x-ray waves through the body. The images...

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

• Complete blood count (CBC) that includes white blood cell count

  Complete blood count

  A complete blood count (CBC) test measures the following:The number of white blood cells (WBC count)The number of red blood cells (RBC count)The numb...

  

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• C-reactive protein (CRP) to check for inflammation

  C-reactive protein

  C-reactive protein (CRP) is produced by the liver. The level of CRP rises when there is inflammation in the body. It is one of a group of proteins,...

  

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• Erythrocyte sedimentation rate (ESR) to check for inflammation

  Erythrocyte sedimentation rate

  ESR stands for erythrocyte sedimentation rate. It is commonly called a "sed rate. "It is a test that indirectly measures the level of certain protei...

  

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• Fibrinogen test to check blood clotting

  Fibrinogen test

  Fibrinogen is a protein produced by the liver. This protein helps stop bleeding by helping blood clots to form. A blood test can be done to tell ho...

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Treatment

The goal of treatment for FMF 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, which is common in people with FMF.

Amyloidosis

Primary amyloidosis is a rare disorder in which abnormal proteins build up in tissues and organs. Clumps of the abnormal proteins are called amyloid...

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NSAIDs may be used to treat fever and pain.

Outlook (Prognosis)

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

Possible Complications

Amyloidosis may lead to kidney damage or not being able to absorb nutrients from food (malabsorption). Fertility problems in women and men and arthritis are also complications.

When to Contact a Medical Professional

Contact your provider if you or your child develops symptoms of this condition.

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