Familial Mediterranean Fever

Familial Mediterranean fever (FMF) is a genetic disorder characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. It is also known as recurrent hereditary polyserositis.

Causes and Risk Factors

FMF is caused by mutations in the MEFV gene, which provides instructions for making a protein called pyrin. This protein is found in certain cells of the immune system and helps regulate the inflammatory response. Mutations in the MEFV gene lead to an overactive inflammatory response, resulting in the symptoms of FMF.

FMF is most commonly found in people of Mediterranean ancestry, including Armenians, Arabs, Greeks, Turks, and Jews. It is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Symptoms

The symptoms of FMF typically begin in childhood or adolescence and may include:

• Recurrent episodes of abdominal pain, which can be severe and may resemble appendicitis
• Chest pain, which can be caused by inflammation of the lining surrounding the lungs (pleurisy) or the heart (pericarditis)
• Joint pain and swelling, particularly in the knees, ankles, and hips
• Muscle pain
• Fever, which can be high and may last for several days
• Rash, which can appear on the skin during an episode of inflammation

Diagnosis

Diagnosing FMF can be challenging, as the symptoms are similar to those of other conditions. A diagnosis is typically made based on a combination of:

• Medical history and physical examination
• Genetic testing to identify mutations in the MEFV gene
• Blood tests to measure inflammation and rule out other conditions

Treatment

Treatment for FMF typically involves:

• Colchicine, a medication that helps reduce inflammation and prevent episodes of pain
• Anti-inflammatory medications, such as ibuprofen or prednisone, to relieve pain and reduce inflammation during an episode
• Interferon alpha, a medication that can help reduce the frequency and severity of episodes
• Lifestyle modifications, such as maintaining a healthy diet and getting regular exercise, to help manage symptoms

Complications

If left untreated or undertreated, FMF can lead to complications, including:

• Amyloidosis, a condition in which abnormal proteins build up in the body's organs and tissues
• Kidney damage or failure
• Infertility in men and women

Prognosis

With proper treatment, most people with FMF can lead active and normal lives. However, the condition can be unpredictable, and episodes of inflammation can occur at any time. Regular monitoring and follow-up care with a healthcare provider are essential to managing the condition and preventing complications.

Frequently Asked Questions (FAQs)

What is Familial Mediterranean Fever (FMF)?
A genetic disorder causing recurring fever and inflammation.

Which populations are commonly affected by FMF?
People of Mediterranean descent, such as Armenians, Arabs, and Jews.

What are the typical symptoms of FMF?
Recurring episodes of fever, abdominal pain, and joint pain.

How is FMF inherited?
Autosomal recessive pattern.

What triggers FMF attacks?
Stress, infection, or minor trauma.

Can FMF cause long-term complications?
Yes, such as kidney damage and amyloidosis.

Is there a cure for FMF?
No, but symptoms can be managed with medication.

What medications are used to treat FMF?
Colchicine and biologic agents.

Can diet or lifestyle changes help manage FMF?
Yes, avoiding triggers and maintaining a healthy lifestyle.

Is genetic testing available for FMF?
Yes, to identify genetic mutations.