Disease: Familial Mediterranean fever


    Familial Mediterranean fever is a genetic autoinflammatory 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 those of North African, Jewish, Arab, Armenian, Turkish, Greek or Italian ancestry. But it can affect people in 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.

    Source: http://www.mayoclinic.com


    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
    • 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.

    Source: http://www.mayoclinic.com


    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 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 result in milder signs and symptoms.

    Source: http://www.mayoclinic.com


    Tests and procedures used to diagnose familial Mediterranean fever include:

    • Physical exam. Your doctor may ask you about your signs and symptoms and conduct a physical exam to gather more information.
    • Review of your family medical history. A family history of familial Mediterranean fever increases your likelihood of developing the condition because this genetic mutation is passed from parents to their children.
    • Blood tests. During an attack, blood tests may show elevated levels of certain markers that indicate an inflammatory condition in your body. An elevated level of white blood cells, which fight infections, is one such marker.
    • Genetic testing. Genetic testing may determine if your MEFV gene contains a mutation that is associated with familial Mediterranean fever. Genetic tests aren't advanced enough to test for every gene mutation that's linked to familial Mediterranean fever, so there is a possibility of false-negative results. For this reason, doctors typically don't use genetic tests as the sole method of diagnosing familial Mediterranean fever.

    Source: http://www.mayoclinic.com


    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.

    Source: http://www.mayoclinic.com

    Coping and support

    Learning that you or your child has a chronic illness, such as familial Mediterranean fever, can be upsetting and frustrating. Here are some tips that may help you cope:

    • Learn about familial Mediterranean fever. Find out enough about familial Mediterranean fever that you feel comfortable making decisions about your or your child's care. Ask your doctor for good sources of information to get you started.
    • Find someone to talk with. Talking to a family member, trusted friend, or a counselor or therapist can allow you to express your fears and frustrations. Some people also find support groups helpful because members truly understand what you're going through. Ask your doctor if there is a support group for people affected by familial Mediterranean fever in your area.

    Source: http://www.mayoclinic.com

    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 people in any ethnic group, but it may be more likely in people of North African, Jewish, Arab, Armenian, Turkish, Greek or Italian descent.

    Source: http://www.mayoclinic.com

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