Familial Mediterranean Fever
What is familial Mediterranean fever?
Familial Mediterranean fever is an illness that causes painful inflammation of the abdomen, joints, and lungs, as well as recurrent fevers. It’s diagnosed during childhood, and although there’s no cure, sticking to a treatment plan may alleviate or prevent signs and symptoms. The disorder is inherited and, more often than not, occurs in Sephardic Jews, Arabs, Greeks, Italians, Armenians, and Turks—people of Mediterranean origin (and affects about 1 in 200 to 1,000 people). However, the disease can present itself in all ethnic groups.
What are the symptoms of familial Mediterranean fever?
Familial Mediterranean fever symptoms occur in bouts, normally called “attacks,” that can last anywhere from one to three days. In between attacks, it’s not unusual for patients to feel normal. Some can go days or even years without an attack, though it varies for all patients. Symptoms include:
- Achy, swollen joints
- Abdominal pain
- Swollen, tender scrotum
- Red rash below the knees
- Muscle aches
What causes familial Mediterranean fever?
A gene mutation (called MEFV) causes familial Mediterranean fever to be passed from generation to generation. MEFV provides instructions to make pyrin, a protein found in white blood cells, which helps regulate inflammation. Mutations vary in severity—some may be very severe, and others may be milder. To diagnose this condition, doctors may do a physical exam, run blood tests, and review your family medical history before diagnosing patients with familial Mediterranean fever.
What treatment options are available for familial Mediterranean fever?
When a patient is diagnosed, colchicine is a drug often used to combat the signs and symptoms of familial Mediterranean fever. Colchicine is taken in pill form and reduces inflammation. Complications can occur if it’s not treated, including:
- Infertility in women
- Abnormal protein in the blood
- Kidney damage
Where can I find more information about familial Mediterranean fever?