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Familial Mediterranean Fever Lynn Fortney Alex McLean Tanner Elliott Location of the Gene • The underlying cause of Familial Mediterranean Fever is mutation in the MEFV gene • Cytogenetic Location: 16p13.3 • Molecular Location on chromosome 16: base pairs 3,232,028 to 3,246,627 Causes of FMF • The MEFV gene carries the instructions for the production of the protein pyrin • Pyrin controls neutrophils • Neutrophils moves into the area of the body where infection or trauma has occurred resulting in inflammation • The abnormal pyrin that is produced from the mutation in the MEFV gene is unstable Causes of FMF • The pyrin has lost its ability to regulate neutrophils and inflammation • This causes what would normally be an unnoticeable or mild inflammation to become severe • Symptoms • The episodes of fever and inflammation usually last 12-72 hours • The fevers are typically between 100-104F • Abdominal pain that ranges from mild to severe and can be either diffuse or localized • Chest pain caused by inflammation of the lining of the lungs Symptoms (cont.) • Joint pain usually confined to one joint at a time, and often involves the hip, knee, or ankle • Myalgia which is muscle pain • Skin rash on the front of the lower leg or top of the foot • Amyloidosis is the presence and depostion of excess amounts of the protein serum amyloid A, the effects on the kidneys is the greatest concern Diagnosis • Genetic tests for the gene is only absolute way to diagnose FMF, but normal tests like x-rays, MRIs, etc, can rule out other diseases, while not during an attack. • Some tests that can be performed during an attack that are higher than normal, but subside afterwards are Ceruloplasmin , C-reactive protein, Erythrocyte sedimentation rate (ESR), Fibrinogen level, Serum haptoglobin, and White blood cell count, all point to FMF. Treatment • The only treatment for the symptoms, is Colchicine • It’s the only medicine that can lessen the effects of the attacks along with the frequency of the attacks. Pedigree chart Impacts of the Disease • Personal Impacts: the episodes can have a crippling effect on the quality of life • Family Impacts: the family are high risk carriers of the mutated gene • World Impacts: weakens the population genetically and socially. Sources • http://ghr.nlm.nih.gov/gene=mefv • The Gale Encyclopedia of Genetic Disorders. Ed. Brigham Narins. Vol. 1. 2nd ed. Detroit: Gale, 2005. p448-452. • http://www.mayoclinic.com/health/familialmediterranean-fever/DS00766 • http://healthtools.aarp.org/adamcontent/fam ilial-mediterranean-fever/1