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Familial Mediterranean fever is an inherited disorder characterized by repeated fevers, as well as inflammation most often affecting the lungs or abdomen. This very rare disorder has no cure. Most patients will have repeated attacks, but the severity and frequency of these attacks varies from patient to patient.
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How Common is this Genetic Disorder?
Those of Mediterranean descent are most often affected by this genetic disorder, specifically those of Armenian, Turkish, Arabic, and Jewish ancestry. Within these populations about one in 250 to one in 1,000 people are affected. This disorder is not as common in other populations.
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MEFV gene mutations cause familial Mediterranean fever. This gene is responsible for giving the instructions necessary to create pyrin (also referred to as marenostrin) a protein found within white blood cells. This protein plays a role in the body's immune system, assisting in the regulation of the inflammation process. The alpha variant of the SAA1 gene may increase a patient's risk of developing amyloidosis when they already have this familial fever. Almost all patients will inherit this genetic disorder in an autosomal recessive pattern. In rare cases, this disorder has an autosomal dominant inheritance pattern. Pseudodominance may also play a role in inheriting this disorder.
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Symptoms of Mediterranean Fever
Symptoms typically start between five and fifteen years of age. Inflammation in the chest cavity, joints, skin, or abdominal cavity lining occurs, along with high fevers that tend to peak within twelve to 24 hours. These attacks can vary in symptoms and severity. Between attacks, patients are most often symptoms-free. The symptoms can include:
- Recurrent abdominal pain
- Relapsing fever or alternating fever and chills
- Swollen and red skin lesions that range from five to twenty centimeters in diameter
- Recurrent chest pain
- Recurrent joint pain
Those with this genetic disorder have a higher risk of developing gallbladder disease or amyloidosis.
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Diagnosing this Genetic Disorder
No specific test is available to definitively diagnose Mediterranean fever. In some cases, chromosome analysis can help. Ruling out other possible disorder, conditions, syndromes, and diseases is commonly done using x-rays or laboratory tests to help confirm the diagnosis. Certain blood tests may come back with higher than normal values when a patient is having an attack. These can include:
- Erythrocyte sedimentation rate
- Genetic testing
- White blood cell count
- C-reactive protein
- Fibrinogen level
- Serum haptoglobin
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How is Mediterranean Fever Treated?
There is no cure for this condition. The treatment revolves around treating the symptoms. A medication that decreases inflammation, known as Colchicine, may be beneficial in alleviating attacks and preventing further attacks.
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Genetics Home Reference. (2010). Familial Mediterranean Fever. Retrieved on July 20, 2010 from Genetics Home Reference: http://ghr.nlm.nih.gov/condition/familial-mediterranean-fever
Medline Plus. (2008). Familial Mediterranean Fever. Retrieved on July 20, 2010 from Medline Plus: http://www.nlm.nih.gov/medlineplus/ency/article/000363.htm
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