Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder characterized by recurrent episodes of fever and inflammation in various parts of the body. It primarily affects individuals of Mediterranean descent, hence the name.
The most prominent symptom of FMF is intense abdominal pain, often accompanied by fever, joint pain, and swelling. These episodes typically last for 1-3 days and can recur sporadically. In severe cases, FMF can lead to complications such as amyloidosis, a condition where abnormal protein buildup damages organs.
FMF is caused by mutations in the MEFV gene, which encodes a protein called pyrin. Pyrin plays a crucial role in regulating inflammation in the body. Mutations in the MEFV gene result in an overactive immune response, leading to the characteristic symptoms of FMF.
Diagnosis of FMF involves assessing clinical symptoms, family history, and genetic testing. While there is no cure for FMF, treatment focuses on managing symptoms and preventing complications. Nonsteroidal anti-inflammatory drugs (NSAIDs) and colchicine, a medication that reduces inflammation, are commonly prescribed to alleviate symptoms and prevent future attacks.
Early diagnosis and appropriate management can significantly improve the quality of life for individuals with FMF.