Familial Mediterranean Fever

Familial Mediterranean fever (FMF) is a lifelong condition that causes recurring episodes of fever and inflammation throughout your body. It’s a genetic disorder that mainly affects people of Mediterranean origin. It’s one of the recurrent fever syndromes, which are autoinflammatory diseases. FMF triggers inflammation in your serous membranes (serositis) and your synovial membranes (synovitis). Episodes typically last a few days and can involve abdominal pain, chest pain, joint pain and other symptoms.

Symptoms of familial Mediterranean fever usually start to appear in childhood, before the age of 20. They’re often severe in the early years and become less frequent and less intense with age. Between episodes, you may be symptom-free for weeks, months or years. Early diagnosis and treatment can help reduce your symptoms and prevent potential long-term complications, like amyloidosis.

Symptoms of familial Mediterranean fever

Familial Mediterranean fever symptoms can include:

• Fever of up to 105 degrees Fahrenheit (40.6 degrees Celsius), often with chills
• Headache, often accompanied by neck stiffness
• Abdominal pain and distention (swelling)
• Rigid abdominal muscles, causing constipation
• Chest pain that’s worse with breathing
• Joint pain and swelling (usually in one joint)
• Scrotal swelling and testicle pain
• Muscle pain, often in your lower body
• A red, raised skin lesion, often on your legs

Symptoms occur in episodes that develop over several hours. Not everyone has every symptom. Fever is the most common, and in childhood, it may be the only symptom. Episodes typically last a few days.

FMF episode warning signs

Some people report prodromal symptoms that occur in the days leading up to an episode and warn that an episode is coming. It’s similar to what some people experience before a migraine or menstruation.

Prodromal FMF symptoms can include:

• Anxiety
• Irritability
• Headache
• Nausea
• Body aches
• Malaise

FMF disease causes

Variations in the MEFV gene cause FMF. Your MEFV gene is involved in creating an important protein called pyrin. Your innate immune system — the part of your immune system that reacts to random threats, like infections — relies on pyrin to function. When your MEFV gene fails to encode pyrin properly, the protein can’t do its job properly within your immune system. This causes dysfunction.

There are at least 30 variations known to cause FMF. The most common ones are V726A, M680I, E148Q, M694V and M694I. They’re most common in Mediterranean and Middle Eastern populations, including:

• Arabs
• Armenians
• Greeks
• Iranians
• Italians
• Jews
• Kurds
• Turks

Triggers for familial Mediterranean fever

While familial Mediterranean fever episodes often seem to occur randomly, some people find that physical or emotional stress can trigger an episode. Some of the triggers people have reported include:

• Cold exposure
• Exercise or exertion
• Recent infection
• Recent injury or surgery
• Severe life stress
• Menstruation or ovulation

Familial Mediterranean fever disease complications

Even though episodes of familial Mediterranean fever are temporary, they can take a toll on your body over time. This is why healthcare providers recommend continuous treatment. Going through this kind of inflammatory process over and over again can overstress your immune system and lead to secondary conditions. The most serious of these is secondary amyloidosis, which can lead to kidney failure.

Other complications of familial Mediterranean fever can include:

• Splenomegaly
• Infertility
• Secondary autoimmune disease

How is familial Mediterranean fever diagnosed?

To diagnose familial Mediterranean fever, a healthcare provider will:

• Review your symptoms, how often they occur and for how long
• Review your family health history and genetic heritage
• Examine you for signs of inflammation during an episode
• Test your blood for signs of inflammation during an episode
• Recommend genetic testing for common variations of the MEFV gene
• Observe your response to treatment for familial Mediterranean fever

Treatment for familial Mediterranean fever

The standard treatment for familial Mediterranean fever is an anti-inflammatory medication called colchicine. It works by inhibiting the activity of white blood cells called neutrophils, which play a role in inflammation. Colchicine can help prevent or reduce the frequency of FMF attacks and its complications. It works for more than 90% of people with FMF. Most of these people will need to take it daily for life.

A small number of people don’t respond to colchicine or can’t take it for health-related reasons. Alternative medications include:

• Anakinra
• Rilonacept
• Canakinumab
  
  

Can FMF be prevented?

Many people carry a gene variant that causes familial Mediterranean fever without realizing it. You need two copies of a variant — one from each parent — to develop FMF. If you have only one copy, you won’t have any symptoms of FMF. But you can still pass your copy on to your biological children. If your partner has a copy, too, your children can inherit FMF. Genetic testing can tell you if you’re a carrier.

What can I expect if I have familial Mediterranean fever?

While there’s no cure, medication can effectively manage familial Mediterranean fever. Many people stop having inflammatory episodes with medication. Others have fewer, milder ones. You’ll have to continue taking it regularly for it to work, even when you’re not having symptoms. Medication can’t stop an episode that’s already happening — it can only work to prevent them from happening.