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Familial Mediterranean fever

Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder that causes recurrent fevers and painful inflammation of your abdomen, chest and joints.

FMF is an inherited disorder that usually occurs in people of Mediterranean origin — including those of Jewish, Arab, Armenian, Turkish, North African, Greek or Italian ancestry. But it can affect people in any ethnic group.

FMF is typically diagnosed during childhood. While there’s no cure for this disorder, you may be able to relieve or even prevent signs and symptoms of FMF by following your treatment plan.

Signs and symptoms of familial Mediterranean fever usually begin during childhood. They occur in bouts called attacks that last 1-3 days. Arthritic attacks may last for weeks or months.

Signs and symptoms of FMF attacks vary, but can include:

The attacks generally resolve spontaneously after a few days. Between attacks, you’ll likely feel back to your typical health. Symptom-free periods may be as short as a few days or as long as several years.

In some people, the first sign of FMF is amyloidosis. With amyloidosis, the protein amyloid A, which is not typically found in the body, builds up in organs — especially the kidneys — causing inflammation and interfering with their function.

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

Familial Mediterranean fever is caused by a gene change (mutation) that’s passed from parents to children. The gene change affects the function of an immune system protein called pyrin, causing problems in regulating inflammation in the body.

In people with FMF, change occurs in a gene called MEFV. Many different changes in MEFV are linked to FMF. Some changes may cause very severe cases, while others may result in milder signs and symptoms.

It’s unclear what exactly triggers attacks, but they may occur with emotional stress, menstruation, exposure to cold, and physical stress such as illness or injury.

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

Complications can occur if familial Mediterranean fever isn’t treated. Inflammation can lead to complications such as:

Tests and procedures used to diagnose familial Mediterranean fever include:

Genetic testing for FMF may be recommended for your first-degree relatives, such as parents, siblings or children, or for other relatives who may be at risk. Genetic counseling can help you understand gene changes and their effects.

There’s no cure for familial Mediterranean fever. However, treatment can help relieve symptoms, prevent attacks and prevent complications caused by inflammation.

Medications used to relieve symptoms and prevent attacks of FMF include:

Colchicine is effective in preventing attacks for most people. To lessen the severity of symptoms during an attack, your health care provider may recommend intravenous fluids and medications to reduce fever and inflammation and control pain.

Regular appointments with your health care provider are important to monitor your medications and your health.

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:

If you have signs and symptoms of familial Mediterranean fever, you may begin by seeing your family health care provider. Your health care provider may refer you to a specialist in inflammatory diseases (rheumatologist).

Because appointments can be brief, and because there’s often a lot to discuss, it’s a good idea to arrive prepared. Here’s some information to help you get ready for your appointment.

What you can do

Your time with your health care provider is limited, so preparing a list of questions can help you make the most of your time together. List your questions from most important to least important in case time runs out. Questions you might want to ask include:

What to expect from your doctor

Your health care provider is likely to ask you a number of questions, including:

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