Familial mediterranean fever
Familial Mediterranean Fever (pronunciation: /fəˈmɪliəl ˌmɛdɪtəˈriːən ˈfiːvər/), often abbreviated as FMF, is a hereditary inflammatory disorder. FMF is an autosomal recessive disease, which means it occurs when an individual inherits two copies of an abnormal gene for the same trait.
Etymology
The term "Familial" refers to the genetic nature of the disease, "Mediterranean" refers to the geographic distribution of the disease, and "Fever" refers to the recurrent fevers that are a key symptom of the disease.
Symptoms
The primary symptoms of FMF are recurrent episodes of fever, accompanied by pain in the abdomen, chest, or joints. These episodes are often accompanied by a rash or headache.
Causes
FMF is caused by mutations in the MEFV gene. This gene provides instructions for making a protein called pyrin, which plays a role in the immune system.
Diagnosis
Diagnosis of FMF is based on clinical findings (symptoms and physical examination) and can be confirmed by genetic testing.
Treatment
Treatment for FMF primarily involves managing symptoms. This can include the use of medications such as colchicine to prevent or reduce the frequency of fever episodes.
Prognosis
With proper treatment, individuals with FMF can lead normal lives. However, without treatment, FMF can lead to complications such as amyloidosis, which can be life-threatening.
See also
External links
- Medical encyclopedia article on Familial mediterranean fever
- Wikipedia's article - Familial mediterranean fever
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