Marfan Syndrome Marfan Syndrome is a genetic disorder that affects the connective tissue in the body

Marfan Syndrome Marfan Syndrome is a genetic disorder that affects the connective tissue in the body

Marfan Syndrome

Marfan Syndrome is a genetic disorder that affects the connective tissue in the body. Connective tissue is found everywhere in the body, which is why Marfan Syndrome can affect several areas. Most often Marfan Syndrome affects the heart, blood vessels, bones, joints, and eyes. The Marfan Foundation states that “Marfan syndrome is caused by a defect mutation in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-?. The increase in TGF-? causes problems in connective tissues throughout the body” (What is Marfan Syndrome, 2018 ). People with Marfan Syndrome often experience several distinct physical characteristics, they tend to be tall, lanky, and have loose joints. There is no way to test if a child has Marfan Syndrome, a doctor can use family history, medical history, and a physical exam to diagnose it (Marfan Syndrome, June 2018 ). The Mayo Clinic stated that Marfan Syndrome can have mild or severe affects. Sometimes with Marfan Syndrome the aorta can be affected which make the disorder life threatening (Marfan Syndrome, March 2018 ). The only risk factor for Marfan syndrome is having a parent with the disorder or the disorder being present in the genetic line. Both men and women and ethnicities can have the disorder. There is no cure for Marfan, most of the time drug therapy is used. Keeping the blood pressure down is important because it helps reduce the strain on the aorta.

References

Marfan Syndrome. (2018, June 07). Retrieved October 21, 2018, from https://medlineplus.gov/marfansyndrome.html

Marfan syndrome. (2018, March 08). Retrieved October 21, 2018, from https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782

What is Marfan Syndrome? (2018, October 03). Retrieved October 21, 2018, from https://www.marfan.org/about/marfan

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