Familial Mediterranean fever

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

Causes

Familial Mediterranean fever is caused by a mutation in the MEFV gene. 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:

  • Abdominal pain that occurs repeatedly (recurrent)
  • Chest pain that occurs repeatedly
  • Fever or alternating chills and fever (relapsing)
  • Recurrent joint pain
  • Skin lesions that are red and swollen and range from 5 - 20 cm in diameter

Exams and Tests

There is no specific test to diagnose this disease. Sometimes analysis of the chromosomes can help. 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:

  • Ceruloplasmin
  • C-reactive protein
  • Erythrocyte sedimentation rate (ESR)
  • Fibrinogen level
  • Genetic testing
  • Serum haptoglobin
  • White blood cell count

Treatment

The treatment for familial Mediterranean fever is treatment of symptoms. Colchicine, a medicine that reduces inflammation, may help during an attack and may prevent further attacks.

Outlook (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.

Possible Complications

Discomfort is the primary complication. There is a risk of addiction to the narcotic pain relievers used to relieve symptoms.

Amyloidosis (deposits of protein in different organs) is more common in patients with familial Mediterranean fever. Gallbladder disease may also occur.

When to Contact a Medical Professional

Call your health care provider if symptoms develop to rule out other possible causes and get appropriate treatment. See a pain specialist if there is chronic pain.

Alternative Names

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