Familial Mediterranean Fever

Diagnosis

Diagnosing familial Mediterranean fever (FMF) involves a detailed assessment of your symptoms, family history, and laboratory test results. Because FMF is an inherited condition, early identification and proper diagnosis are essential for managing symptoms and preventing complications.

Common steps in the diagnostic process include:

• Physical exam – Your healthcare provider will review your symptoms and perform a physical examination to identify signs of inflammation or related complications.

• Family medical history – A detailed family history helps determine if other relatives have experienced similar symptoms or been diagnosed with FMF. Since the genetic change causing FMF is inherited, a family history significantly increases the likelihood of developing the condition.

• Lab tests – During an attack, blood and urine tests may show elevated inflammatory markers such as increased white blood cells or the presence of protein in the urine, which may indicate amyloidosis.

• Genetic testing – A test can detect mutations in the MEFV gene associated with FMF. However, because not all possible gene changes can be identified, false-negative results are possible. Genetic testing is often recommended for first-degree relatives such as parents, siblings, and children. Genetic counseling can help families understand the implications of the results.

Treatment

There is no cure for familial Mediterranean fever, but treatment focuses on reducing inflammation, preventing attacks, and minimizing long-term complications. Most people can manage the condition effectively with proper medication and ongoing medical care.

Medications commonly used for FMF include:

• Colchicine (Colcrys) – This oral medication helps prevent attacks and reduces inflammation. It also lowers the risk of developing amyloidosis, a serious complication of FMF. The dosage varies by individual, with some people taking a single daily dose and others needing smaller, more frequent doses. Common side effects include nausea, abdominal pain, and diarrhea. Treatment is typically lifelong.

• Other anti-inflammatory drugs – For individuals who do not respond well to colchicine, medications that block the interleukin-1 protein may be prescribed. These include canakinumab (Ilaris), which is FDA-approved for FMF, as well as rilonacept (Arcalyst) and anakinra (Kineret), which may be used off-label to reduce inflammation.

During an FMF attack, healthcare providers may recommend:

• Intravenous fluids

• Medications to reduce fever

• Pain relief treatments

Regular follow-up appointments are important to monitor the effectiveness of treatment, adjust dosages, and check for any side effects or complications.

Coping and support

Living with a chronic condition like FMF can be challenging. Emotional and mental health support can make a big difference in managing daily life.

Helpful coping strategies include:

• Learn about FMF – Understanding the condition can help you make informed decisions about care and treatment. Ask your healthcare provider for trusted resources.

• Seek emotional support – Talking with a counselor, therapist, or support group can help you manage frustration and fear. Sharing experiences with others who have FMF may also provide comfort and encouragement.

Preparing for your appointment

If you or your child has symptoms suggestive of FMF, your family doctor may refer you to a rheumatologist who specializes in inflammatory diseases. Preparing for your appointment helps ensure that you get the most out of your visit.

Before your appointment:

• Ask if there are any restrictions, such as fasting before blood tests.

• Make a list of symptoms, even those that may not seem related.

• Note key personal information, including stress factors or life changes.

• List all medications, vitamins, and supplements you take, including dosages.

• Consider bringing a family member or friend for support.

You may also prepare questions for your healthcare provider, such as:

• What is likely causing my symptoms?

• What treatments are available, and what are their side effects?

• Should my family members be tested for FMF?

• How can I prevent complications?

• Are there any activity or diet restrictions?

Your healthcare provider may ask questions to better understand your condition, such as:

• When did your symptoms begin?

• How often do they occur, and what triggers them?

• Do you notice any warning signs before an attack?

• Do other family members have FMF or similar symptoms?