Familial mediterranean fever

Familial Mediterranean Fever (FMF) is a genetic disorder that usually occurs in individuals of Mediterranean descent, particularly those from non-Ashkenazi Jewish, Armenian, Arab, and Turkish populations. The disorder is characterized by recurrent episodes of fever and inflammation in the abdomen, chest, and joints. These episodes are often accompanied by a rash or headache. FMF is caused by mutations in the MEFV gene and is inherited in an autosomal recessive manner.

Symptoms

The primary symptoms of FMF are recurrent episodes of fever, abdominal pain, chest pain, and arthritis. These episodes usually last for 1-3 days and are often accompanied by a rash or headache. Other symptoms may include muscle aches, fatigue, and swollen lymph nodes. In some cases, individuals with FMF may develop amyloidosis, a condition in which an abnormal protein called amyloid builds up in the body's organs and tissues.

Causes

FMF is caused by mutations in the MEFV gene, which provides instructions for making a protein called pyrin. Pyrin plays a role in the immune system, helping to regulate the body's response to injury or infection. Mutations in the MEFV gene disrupt the function of pyrin, leading to uncontrolled inflammation and the symptoms of FMF.

Diagnosis

Diagnosis of FMF is based on the presence of characteristic symptoms, a family history of the disorder, and genetic testing to identify mutations in the MEFV gene. Other tests may be used to rule out other conditions that can cause similar symptoms.

Treatment

Treatment for FMF primarily involves managing symptoms and preventing complications. This may include the use of medications to reduce inflammation and fever, and in some cases, surgery to remove the appendix or other affected organs. Individuals with FMF should also be monitored for the development of amyloidosis.

Prognosis

With appropriate treatment, most individuals with FMF can lead normal lives. However, the disorder can lead to serious complications if not properly managed, including kidney failure due to amyloidosis.

See also

• Genetic disorders
• Inflammatory diseases
• MEFV gene
• Amyloidosis

References

Familial mediterranean fever Resources
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