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. People from other ethnic groups may also be affected.
This disease is very rare. Risk factors include a family history of familial Mediterranean fever and Mediterranean ancestry.
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. Patients are usually symptom-free between attacks.
Skin sores (lesions) that are red and swollen and range from 5 - 20 cm in diameter
Exams and Tests
If genetic testing shows that you have the mutation associated with this condition, and your symptoms match a typical pattern, the diagnosis is nearly certain. Laboratory tests or x-rays can rule out other possible diseases to help make 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.
When to Contact a Medical Professional
Call your health care provider if you or your child develops symptoms of this condition.
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.