Familial Mediterranean Fever (FMF): Symptoms, Causes, Treatment

What are the symptoms of familial Mediterranean fever?

Familial Mediterranean Fever (FMF) is characterized by recurrent episodes of fever and other symptoms. Key symptoms include:

• Recurrent fevers: High fever that lasts for a few days, often occurring in episodes.
• Abdominal pain: Severe pain in the abdomen, typically due to inflammation of the lining of the abdominal cavity.
• Chest pain: Pain in the chest area, often caused by inflammation of the lining of the lungs or heart.
• Joint pain: Inflammation and pain in the joints, which can affect one or more joints.
• Rashes: Skin rashes, usually in the form of erysipelas-like erythema (red, swollen skin).
• Muscle pain: Muscle aches or pain may also occur.
• Fatigue: General feeling of tiredness and lack of energy.
• Pericarditis or pleuritis: Inflammation of the heart lining (pericarditis) or the lung lining (pleuritis) in some cases.

Symptoms typically begin in childhood or early adulthood and can vary in severity and frequency. FMF is caused by genetic mutations and often requires ongoing management to control symptoms and prevent complications.

What are the causes of familial Mediterranean fever?

Familial Mediterranean Fever (FMF) is caused by genetic mutations in the MEFV gene, which is responsible for producing a protein called pyrin. Pyrin plays a role in regulating inflammation. The main causes include:

• Genetic mutations: FMF 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 disease. Mutations in the MEFV gene lead to dysregulation of the immune system and excessive inflammation.
• Family history: The condition is more common in certain ethnic groups, including people of Mediterranean descent (such as Armenians, Turks, Arabs, and Jews). A family history of FMF increases the likelihood of inheriting the condition.

In summary, FMF is caused by inherited genetic mutations that affect the body’s inflammatory response.

What is the treatment for familial Mediterranean fever?

Treatment for Familial Mediterranean Fever (FMF) primarily focuses on managing symptoms and preventing complications. The main strategies include:

• Colchicine: The primary treatment for FMF, colchicine helps reduce inflammation and prevent attacks. It is usually effective in preventing episodes and long-term complications.
• Nonsteroidal anti-inflammatory drugs (NSAIDs): May be used to manage pain and inflammation during acute attacks.
• Corticosteroids: In severe cases or when colchicine is not effective, corticosteroids like prednisone may be used to control inflammation.
• Biologic agents: In some cases, medications such as tumor necrosis factor (TNF) inhibitors or interleukin-1 (IL-1) inhibitors may be prescribed to control inflammation if colchicine and corticosteroids are not sufficient.

Regular follow-up with a healthcare provider is essential to monitor disease progression and adjust treatment as needed. Adherence to the prescribed treatment regimen can help manage symptoms and improve quality of life.