Diagnosis

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.

Treatment

There's no cure for familial Mediterranean fever. However, treatment can help prevent signs and symptoms.

Medications used to control signs and symptoms of familial Mediterranean fever include:

  • Colchicine. This drug, taken in pill form, reduces inflammation in your body and helps prevent attacks. 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 bloating, abdominal cramps and diarrhea.
  • Other drugs to prevent inflammation. For people whose signs and symptoms aren't controlled with colchicine, other medications that control inflammation may be options, though these treatments are considered experimental. Other medications include rilonacept (Arcalyst) and anakinra (Kineret).

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 so that you feel comfortable making decisions about 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.

Preparing for your appointment

If you have signs and symptoms of familial Mediterranean fever, you may begin by seeing your family doctor. You may be referred to a doctor who specializes in inflammatory diseases (rheumatologist).

Because appointments can be brief, and because there's often a lot of ground to cover, 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.
  • Write down any symptoms you're experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
  • Write down key personal information, including any major stresses or recent life changes.
  • Make a list of all medications, vitamins or supplements that you're taking.
  • 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.
  • Write down questions to ask your doctor.

Your time with your doctor 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 your doctor 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 other children be tested?
  • If I want to have more children, can I protect them from the disease?

What to expect from your doctor

Your doctor 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?
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