Familial Mediterranean Fever

Familial Mediterranean fever (FMF) is a genetic condition that causes episodes of fever and inflammation that come and go throughout your life. It’s named for the fact that it usually affects people from Mediterranean ethnicities.

FMF is a recurrent fever syndrome. It causes inflammation in two types of membranes:

• Serous membranes: These line the inside of your body cavities and cover some of your organs.
• Synovial membranes: These membranes line some of your joints.

FMF episodes usually last a few days. During an episode, you’ll notice pain and other symptoms in your:

• Belly
• Chest
• Joints

Familial Mediterranean fever symptoms usually first appear before you turn 20. They’re often severe in the early years. The episodes may happen less often and be less severe as you age. Between episodes, you may be symptom-free for weeks, months or years.

Visit a healthcare provider if you’re having pain, fevers or other symptoms that keep coming back. Early diagnosis and treatment can help you feel better and prevent potential long-term complications.

Symptoms of familial Mediterranean fever

FMF symptoms can include:

• Fever of up to 105 degrees Fahrenheit (40.6 degrees Celsius), often with chills
• Headache, often with neck stiffness
• Abdominal pain and swelling
• Stiff ab (belly) muscles that can lead to constipation
• Chest pain that’s worse when you breathe in
• Joint pain and swelling (usually in one joint)
• Pain in your testicles and/or swelling in your scrotum
• Muscle pain, often in your lower body
• Skin lesions, often on your legs

The symptoms usually develop over several hours and last a few days. You probably won’t experience every symptom on this list. Fever is the most common. It’s often the only symptom in children.

You might notice warning signs of an FNF episode. They usually happen a few days before an episode starts. These are called prodromal symptoms. They include:

• Increased anxiety
• Irritability
• Headache
• Nausea
• Body aches
• Feeling generally sick or unwell

Triggers for familial Mediterranean fever

Episodes may occur randomly. But some people find they happen after specific triggers, including:

• Stress
• Exposure to cold temperatures
• Exercise or exertion
• Infections
• Injuries or surgeries
• Menstruation or ovulation

FMF disease causes

Genetic variations cause FMF. Specifically, changes in the MEFV gene. This gene helps create an important protein called pyrin. Your immune system relies on pyrin to work properly. When a changed MEFV gene makes the wrong kind of pyrin, your immune system doesn’t work like it should. This causes the inflammation and episodes of symptoms.

There are at least 30 genetic variations that can cause FMF. They’re most common in people from Mediterranean and Middle Eastern ethnicities. You may have a higher risk if your biological ancestry is:

• Arabic
• Armenian
• Greek
• Iranian
• Italian
• Jewish
• Kurdish
• Turkish

Familial Mediterranean fever disease complications

Episodes of FMF are temporary. But they can take a toll on your body over time. Experiencing inflammation over and over again can overstress your immune system. This may lead to other health conditions. The most serious example is secondary amyloidosis.

Other complications of familial Mediterranean fever can include:

• An enlarged spleen
• Infertility
• Developing other autoimmune diseases

How doctors diagnose familial Mediterranean fever

A healthcare provider will diagnose familial Mediterranean fever with a physical exam and some tests. They’ll discuss your health history and review any symptoms you’ve experienced. Tell your provider how often symptoms come and go, and when you first noticed them.

You might need blood tests to check for signs of inflammation during an episode. Your provider may suggest genetic testing to check for MEFV changes.

Your provider will monitor your body for changes after you start treatment.

Treatment for familial Mediterranean fever

Colchicine is the most common familial Mediterranean fever treatment. It’s an anti-inflammatory medication. Colchicine can help prevent or reduce the frequency of FMF episodes. It can also lower your risk of complications. It works for more than 9 in 10 people with FMF. You’ll probably need to take it every day for the rest of your life.

Your healthcare provider will suggest other medicines if it’s not safe for you to take colchicine or it doesn’t work. You might need:

• Anakinra
• Rilonacept
• Canakinumab

What can I expect if I have familial Mediterranean fever?

You should expect to manage FMF for the rest of your life. Medication can manage the symptoms and reduce how often you experience them. But there’s no cure.

Many people stop having episodes with medication. Others have fewer, milder ones. You’ll have to take your medicine all the time, even when you’re not having symptoms.