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 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.
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:
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.
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.
A serious complication is amyloidosis, a condition in which abnormal proteins build up in the organs and joints.
Gallbladder disease may also occur.
Calling your health care provider
Call your health care provider if you or your child develop symptoms of this condition.
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., Inc.