Familial Mediterranean Fever

Addison James & Isabelle Muschamp

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Nature of the Genetic Difficulty

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Familial Mediterranean fever is caused by mutations in the MEFV (Mediterranean Fever) gene. MEFV is located on the short arm of chromosome 16 at position 13.3 or base pair 3,292,027 to base pair 3,306,626. The MEFV gene provides instructions for making a protein called pyrin which regulates the process of inflammation. While pyrin's exact regulatory role is unknown, it may function as an inhibitor of inflammation. There are more than 80 identified MEFV gene mutations that cause Familial Mediterranean Fever (FMF), a few of which delete small amounts of DNA from the MEFV gene while most replace the amino acid methionine with valine at protein position 694. This specific mutation of the MEFV gene is also associated with an increased risk of developing amyloidosis, a complication in which abnormal protein deposits can lead to kidney failure.

Basis Facts of Disease


Symptoms

Familial Mediterranean Fever is an inherited condition characterized by episodes of inflammation in the abdomen, chest, and joints accompanied by a fever and sometimes a rash. Episodes can last 12 to 72 hours, and the severity of the attacks and amount of time between attacks can vary. Without treatment a buildup of protein deposits in the body's organs and tissues may occur, leading to kidney failure, a condition known as amyloidosis. Symptoms usually begin between ages 5 and 15.

Treatment

There is no cure for Familial Mediterranean Fever but Colchicine, a medicine that reduces inflammation, is used to help reduce the severity of the symptoms.


Synonyms

  • Armenian Syndrome
  • Benign Paroxysmal Peritonitis
  • Familial Paroxysmal Polyserositis
  • FMF
  • MEF
  • Periodic Amyloid Syndrome
  • Periodic Peritonitis Syndrome
  • Polyserositis, Recurrent
  • Reimann Periodic Disease
  • Reimann's Syndrome
  • Siegel-Cattan-Mamou Syndrome

Prognosis


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.

Sources Cited

http://www.ghr.nlm.nih.gov/condition/familial-mediterranean-fever

http://ghr.nlm.nih.gov/gene/MEFV

http://emedicine.medscape.com/article/330284-overview#a0199

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001402/

http://arthritis.webmd.com/mediterranean-fever-familial

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