Familial Mediterranean fever

Familial Mediterranean Fever: Description, Causes and Risk Factors: Abbreviation: FMF. Familial Mediterranean FeverFamilial Mediterranean fever is an autosomal recessive disorder mostly prevalent in Mediterranean populations. It is characterized by recurrent self-limited episodes of fever, arthritis, serositis, and skin rash, with marked accumulations of polymorphonuclear leukocytes in affected areas during attacks. The most severe complication of the disorder is the development of amyloidosis, leading to nephrotic syndrome and end-stage renal disease. Familial Mediterranean fever is most often caused by a mutation in the MEFV gene (The MEFV gene, located on chromosome 6p13.3, has 10 exons and encodes a 781 amino acid protein, termed pyrin). Over 35 mutations have been discovered so far. The 5 most frequent mutations are M694V, M694I, V726A, M680I and E148Q. The FMF gene, encodes a 781-aa protein denoted pyrin, which is expressed primarily in neutrophils, eosinophils, and cytokine-activated monocytes. This gene creates proteins involved in inflammation. When the MEFV gene has a defect inflammation gets out of control, and patients experience episodes of fever and pain. Infection, trauma, menstrual periods or psychological stress may trigger episodes of fever in FMF. The condition usually affects people of Mediterranean ancestry, especially non-Ashkenazi (Sephardic) Jews, Armenians, and Arabs, although people from other ethnic groups may also be affected. This disease is very rare. Risk factors include a family history of familial Mediterranean fever or having Mediterranean ancestry. Symptoms: Symptoms may include repeated episoders of: Abdominal pain. Diagnosis: There is no specific test to diagnose this disease.If genetic testing shows you have the mutation known to be associated with this condition, and your symptoms match a typical pattern, the diagnosis is nearly certain.Ruling out other possible diseases using laboratory tests or x-rays will help determine the diagnosis. Certain blood tests may be higher than normal when done during an attack.Tests may include: Complete blood count (CBC).
  • C-reactive protein.
  • Erythrocyte sedimentation rate (ESR).
  • White blood cell count.
Treatment: There is no known cure for familial Mediterranean fever. Most people continue to have attacks, but the number and severity of attacks is different from person-to-person. The goal of treatment for familial Mediterranean fever is to control symptoms. Colchicine, a medicine that reduces inflammation, may help during an attack and may prevent further attacks. It can also help prevent a serious complication called systemic amyloidosis. NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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