Familial Mediterranean fever

Tests and procedures used to diagnose familial Mediterranean fever include:

• Physical exam. Your health care provider may ask you about your signs and symptoms and do a physical exam to gather more information.
• Review of your family medical history. A family history of Familial Mediterranean fever (FMF) increases your likelihood of developing the condition because this genetic change is passed from parents to their children.
• Lab tests. During an attack, blood and urine 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. Protein in the urine that may indicate amyloidosis is another.
• Genetic testing. Genetic testing may determine if your MEFV gene contains a gene change that is associated with FMF. Genetic tests aren't advanced enough to test for every gene change that's linked to FMF, so there is a possibility of false-negative results. For this reason, health care providers typically don't use genetic tests as the sole method of diagnosing FMF.

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. Colchicine (Colcrys), taken in pill form, reduces inflammation in your body and helps prevent attacks and the development of amyloidosis. Work with your doctor to determine the best dosing strategy for you. Some people take one dose a day, while others need smaller, more-frequent doses. Common side effects include abdominal pain, nausea and diarrhea. Treatment is generally lifelong.
• Other drugs to prevent inflammation. For people whose signs and symptoms aren't controlled with colchicine, medications that block a protein called interleukin-1, which is involved in inflammation, may be prescribed. Canakinumab (Ilaris) is approved by the U.S. Food and Drug Administration (FDA) for FMF. Although not Food and Drug Administration (FDA)-approved specifically for FMF, other options include rilonacept (Arcalyst) and anakinra (Kineret).

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:

• Learn about FMF. Find out enough about FMF so that you feel comfortable making decisions about your or your child's care. Ask your health care provider 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 health care provider if there is a support group for people who have FMF in your area.

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

• Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance, such as restrict your diet to prepare for testing.
• Make a list of any symptoms you're experiencing, including any that may seem unrelated to the reason for the appointment.
• Make a list of key personal information, including any major stresses or recent life changes.
• Make a list of all medications, vitamins or supplements that you're taking, and the doses.
• Consider taking a family member or friend along. Sometimes it can be difficult to remember all the information provided during an appointment. Someone who accompanies you may remember something that you missed or forgot.
• Make a list of questions to ask your health care provider.

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 do you think is causing my or my child's symptoms?
• What caused this condition?
• What treatments are available?
• What are the possible side effects of treatment?
• Are there any other possible treatments?
• If other health problems are present, how can they be treated as well?
• Are there any restrictions on activity?
• Should my family members be tested?
• If I want to have more children, can I protect them from this disorder?

What to expect from your doctor

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

• When did you first begin experiencing symptoms?
• Have your symptoms been continuous, or do they come and go?
• How long do your symptoms last?
• What seems to trigger your symptoms, and what warning signs help you predict when they will occur?
• Is there anything you do to stop or lessen the severity of your symptoms?
• Do your symptoms seem to follow a pattern?
• Do you have blood relatives with familial Mediterranean fever?