What is Familial Mediterranean Fever (FMF)?

Familial Mediterranean Fever (FMF) is a rare, inherited autoinflammatory disorder that primarily affects people of Mediterranean descent. It is characterized by recurrent episodes of fever and painful inflammation in the abdomen, chest, and joints. FMF is caused by mutations in the MEFV gene, which affects the body's ability to regulate inflammation.

What Causes Familial Mediterranean Fever?

FMF is a genetic disorder caused by mutations in the MEFV gene. This gene encodes a protein called pyrin, which helps regulate the body's inflammatory response. Mutations in this gene lead to uncontrolled inflammation, resulting in the characteristic symptoms of FMF. The disorder follows an autosomal recessive inheritance pattern, meaning both parents must pass on a mutated gene for a child to develop the condition.

Symptoms of Familial Mediterranean Fever

FMF symptoms usually begin in childhood and include:

• Recurrent episodes of fever
• Severe abdominal pain
• Chest pain due to inflammation of the lining of the lungs
• Joint pain and swelling, particularly in the knees and ankles
• Skin rashes, particularly on the lower legs
• Fatigue and general malaise

Complications of Familial Mediterranean Fever

Without proper treatment, FMF can lead to severe complications, including:

• Amyloidosis: A condition where abnormal protein deposits damage organs, especially the kidneys.
• Chronic kidney disease: Due to persistent inflammation and amyloid buildup.
• Infertility: In severe cases, reproductive organs may be affected.
• Arthritis: Chronic joint inflammation can lead to long-term mobility issues.

Diagnosis of Familial Mediterranean Fever

FMF is diagnosed based on clinical symptoms, family history, and genetic testing. Doctors may perform the following tests:

• Blood tests: To detect signs of inflammation.
• Genetic testing: Identifies mutations in the MEFV gene.
• Physical examination: Evaluates symptoms such as joint swelling and rashes.

Treatment for Familial Mediterranean Fever

While there is no cure for FMF, treatment focuses on managing symptoms and preventing complications. The most common treatment options include:

• Colchicine: A medication that helps reduce inflammation and prevents attacks.
• Nonsteroidal anti-inflammatory drugs (NSAIDs): To manage pain and inflammation.
• Biologic therapy: In severe cases, biologic medications that target inflammatory pathways may be prescribed.

Frequently Asked Questions about FMF

Is FMF a lifelong condition?

Yes, FMF is a chronic genetic disorder, but with proper treatment, most people can manage their symptoms effectively.

Can FMF be prevented?

Since FMF is a genetic disorder, it cannot be prevented. However, genetic counseling can help assess the risk for prospective parents.

How often do FMF flare-ups occur?

The frequency varies among individuals, but attacks can occur weekly, monthly, or even sporadically.