Overview

Familial Mediterranean fever is an inflammatory disorder that causes recurrent fevers and painful inflammation of your abdomen, lungs and joints.

Familial Mediterranean fever is an inherited disorder that usually occurs in people of Mediterranean origin — including Sephardic Jews, Arabs, Greeks, Italians, Armenians and Turks. But it may affect any ethnic group.

Familial Mediterranean fever is typically diagnosed during childhood. While there's no cure for this disorder, you may be able to relieve signs and symptoms of familial Mediterranean fever — or even prevent them altogether — by sticking to your treatment plan.

Symptoms

Signs and symptoms of familial Mediterranean fever usually begin during childhood. They occur in bouts called attacks that last one to three days. Arthritic attacks may last for weeks or months.

Signs and symptoms of familial Mediterranean fever include:

  • Fever
  • Abdominal pain
  • Chest pain
  • Achy, swollen joints
  • Constipation followed by diarrhea
  • A red rash on your legs, especially below your knees
  • Muscle aches
  • A swollen, tender scrotum

Between attacks, you'll likely feel normal. Symptom-free periods may be as short as a few days or as long as several years.

When to see a doctor

If you or your child experiences sudden worrisome signs or symptoms, such as shortness of breath or passing out, call 911 or emergency medical help.

See your doctor if you or your child has a sudden fever accompanied by pain in the abdomen, chest and joints.

Causes

Familial Mediterranean fever is caused by a gene mutation that's passed from parents to children. The gene mutation causes problems in regulating inflammation in the body.

In people with familial Mediterranean fever, the gene mutation occurs in a gene called MEFV. Many different mutations in MEFV are linked to familial Mediterranean fever. Some mutations may cause very severe cases, while others may be milder.

Risk factors

Factors that may increase the risk of familial Mediterranean fever include:

  • Having a family history of the disease. If you have a family history of familial Mediterranean fever, your risk of the disease is increased.
  • Being of Mediterranean ancestry. If your family can trace its history to the Mediterranean region, your risk of the disease may be increased. Familial Mediterranean fever can affect any ethnic group, but it may be more likely in Sephardic Jews, Arabs, Italians, Armenians and Turks.

Complications

Complications can occur if familial Mediterranean fever isn't treated. Complications can include:

  • Abnormal protein in the blood. During attacks of familial Mediterranean fever, your body may produce an abnormal protein (amyloid A). The protein can accumulate in your body and cause organ damage (amyloidosis).
  • Kidney damage. Amyloidosis can damage the kidneys, causing nephrotic syndrome. Nephrotic syndrome occurs when your kidneys' filtering systems (glomeruli) are damaged. People with this condition may lose large amounts of protein in their urine. Nephrotic syndrome can lead to blood clots in your kidneys (renal vein thrombosis) or kidney failure.
  • Infertility in women. Inflammation caused by familial Mediterranean fever may also affect the female reproductive organs, causing infertility.
  • Joint pain. Arthritis is common in people with familial Mediterranean fever. The most commonly affected joints are the knees, ankles, hips and elbows.
Aug. 21, 2015
References
  1. Longo DL, et al., eds. Familial Mediterranean fever and other hereditary autoinflammatory diseases. In: Harrison's Principles of Internal Medicine. 19th ed. New York, N.Y.: The McGraw-Hill Companies; 2015. http://accessmedicine.com. Accessed July 29, 2015.
  2. Goldfinger SE. Clinical manifestations and diagnosis of familial Mediterranean fever. http://www.uptodate.com/home. Accessed July 29, 2015.
  3. Goldfinger SE. Management of familial Mediterranean fever. http://www.uptodate.com/home. Accessed July 29, 2015.
  4. Goldfinger SE. Pathophysiology of familial Mediterranean fever. http://www.uptodate.com/home. Accessed July 29, 2015.

Familial Mediterranean fever