Marfan Syndrome Case

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Abstract: Marfan syndrome is a genetic connective tissue disorder caused by mutations in the FBNI1 and other genes such as TGFBR1 and TGFBR2. The syndrome affects the skeletal system, the cardiovascular system, the ocular system, and respiratory systems. Marfan syndrome has a significant mortality rate and it extremely difficult to diagnosis. The syndrome currently does not have a set treatment aside from surgery and though recent technological advancements have decreased the mortality rate, many patients are still dying. Patients suffer a poor quality of life and the demand for a cure is higher than it has ever been.

Have you ever thought you were abnormally taller or longer than others? You probably do not have it, but for some people,
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The current treatment is surgery and close watch on the heart. Many patients are waiting for a proper treatment, but that is yet to come. The methods of Diagnosis for Marfan syndrome are different than the current state of the treatment. The current, effective treatment for Marfan’s is called Ghent nosology. Ghent nosology is appropriately described by J.S. Dean from the European Journal of Human Genetics, saying “In the Ghent nosology, clinical features are assessed within the seven body ‘systems’, to determine whether that system provides a major criterion, or only system involvement. A diagnosis of Marfan syndrome requires a major criterion in two systems and involvement of a third” (pg. 726). The most common areas Marfan syndrome affects is the cardiovascular, ocular, skeletal, and respiratory systems. The cardiovascular assessment part of Ghent nosology requires measurement of the aortic diameter and possibly an EKG. The ocular part of Ghent nosology can be found easily if the person has or needs glasses or has had recurrent eye problems. The skeletal test of Ghent nosology is measured through X-rays, MRI’s, and comparisons of normal values based on height and weight. Issues with the respiratory system can also be found through X-Rays and MRI’s. One other way to diagnose Marfan’s is through genetic testing. Genetic testing is the quickest way to diagnosis Marfan’s but not the most accurate, as some…show more content…
The following question is a very good question to ask. Other than the possible sudden death caused by the syndrome and the risk of passing the syndrome down to their offspring, Marfan patients are required to have lifelong medical caution. The syndrome is just as costly as cancer can be, and there is surprisingly little awareness of it. Many people have never heard of it when asked what it is. According to Pyeritz, a writer for The New England Journal of Medicine; “For the estimated 25,000 to 30,000 people with the syndrome in the United States, the hope is for a cure” (pg. 5). The age that symptoms start to appear is low; in “Prevalence, incidence, and age at diagnosis in Marfan Syndrome”; it states “The median age at diagnosis for the entire Marfan syndrome group was 19.0 years. With males at a median age of 18.3 years and females at an age of 19.9 years” (pg. 3). The insanity of how difficult the syndrome is to diagnosis makes it one of the reasons people are affected by

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