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Familial Mediterranean fever

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

 

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 proteins involved in inflammation.

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
  • 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 or x-rays can rule out other possible diseases to help make the diagnosis.

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

  • Complete blood count (CBC)
  • C-reactive protein to check for inflammation
  • Erythrocyte sedimentation rate (ESR) to check for inflammation
  • Fibrinogen test to check blood clotting
  • White blood cell count

 

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.

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

 

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

 

 

References

Ombrello AK, Kastner DL. Hereditary periodic fever syndromes and other systemic autoinflammatory diseases. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 163.

Simon A, van der Meer JWM, Drenth JPH. Familial autoinflammatory syndromes. In: Firestein GS, Budd RC, Gabriel SE, McInnes IB, O'Dell JR, eds. Kelly's Textbook of Rheumatology. 9th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap 97.

 
  • Temperature measurement

    Temperature measurement - illustration

    A thermometer is a useful aid used to measure body temperature. A thermometer is usually filled with mercury. Mercury in the tube rises when expanded by an increase in body temperature.

    Temperature measurement

    illustration

    • Temperature measurement

      Temperature measurement - illustration

      A thermometer is a useful aid used to measure body temperature. A thermometer is usually filled with mercury. Mercury in the tube rises when expanded by an increase in body temperature.

      Temperature measurement

      illustration

    A Closer Look

     

    Talking to your MD

     

      Self Care

       

        Tests for Familial Mediterranean fever

         

           

          Review Date: 7/31/2016

          Reviewed By: 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, Boston, MA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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