Familial Mediterranean fever
Familial Mediterranean fever is a disorder passed down through families (inherited), which involves repeated fevers and inflammation that often affects the lining of the abdomen, chest, or joints.
Causes of Familial Mediterranean fever
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.
Familial Mediterranean fever 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. Patients 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 - 20 cm in diameter
Tests and Exams
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:
- Complete blood count (CBC)
- C-reactive protein
- Erythrocyte sedimentation rate (ESR)
- Fibrinogen test
- White blood cell count
Treatment of Familial Mediterranean fever
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 Health Professional
Call your health care provider if you or your child develops symptoms of this condition.
Kastner DL. The systemic autoinflammatory diseases. In: Goldman L, Schafer AI, eds.Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 269.
|Review Date: 8/31/2014
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.