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 hours The fevers are typically between F 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 The Gale Encyclopedia of Genetic Disorders. Ed. Brigham Narins. Vol nd ed. Detroit: Gale, p The Gale Encyclopedia of Genetic Disorders mediterranean-fever/DS mediterranean-fever/DS ilial-mediterranean-fever/1