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What is Marfan Syndrome by Mandakini Patel

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Marfan syndrome is a disease related to connective tissue disorder. Connective tissues are the tissues in the body that help support, connect other tissues and organs of the body and also plays and important role in growth and development of the body. Marfan syndrome is said to be a genetic disorder. Marfan syndrome is caused due to mutation on chromosome 15 of gene FBN1, this gene encodes a protein called glycoprotein fibrillin -1 which is an important protein component of extracellular matrix. The fibrillin protein is necessary for the formation of the extracellular matrix and maintenance of elastic fibers of the body. The extracellular matrix is necessary for the structural integrity of connective tissue, and it also acts as a reservoir of growth factors. The major organ’s affected due to Marfan syndrome are aorta, ligaments, eye, skin, lungs, bones and joints because they have abundant amount of elastin fibers.

TGF (Transforming growth factor) is an important factor that plays a role in the Marfan syndrome. In this disease state it is said that the fibrillin-1 directly binds to a latent form of TGF, keeping it isolated and unable to exert its activity, although its is not proven that elevated levels of TGF are exactly responsible for the pathological changes seen with the disease, but it is caused due to an inflammation reaction releasing protease that degrades the elastin fibers and the extracellular matrix.

Since this disease is related to connective tissue, which is found everywhere in the body, there are various symptoms related to this disease. It is said that about 1 in 5,000 people have Marfan syndrome; some people are born with Marfan syndrome while others acquire it when they are adults. There are different ways in which the body is affected in this disease state, some of them are as follows:

Heart and the blood vessels: – usually there is enlargement of aorta, which is a main blood vessel that carries blood from the heart to the rest of the body. Separation of the layers of the aorta are also seen which causes it to tear and also mitral valve prolapse which cause the murmur sound in the heart beat.

Bones and joints: – people with Marfan syndrome have long arms and legs, tall and thin body, long and thin fingers, flat feet, spine is curved, joints are flexible, chest sinks or sticks out, and their teeth are usually crowded.

Eyes: – Myopia (near sightedness), lens of the eye is dislocated, retina gets detached, patients with Marfan syndrome get early cataracts and glaucoma.

Lungs: – Lungs get collapsed suddenly, asthma, COPD, sleep apnea.

Other symptoms may include stretch marks, which are not explained by pregnancy, weight loss or gain.

Diagnosis: – several exams are done on several parts of the body, a complete medical checkup, and getting a detailed family history is an important step in the diagnosis regimen. Other test conducted are echocardiogram, electrocardiogram, this two test mainly check or looks for the aorta, heart, valves, heart rhythms, heart beats. Eye examination is very important as we looked at the symptoms related to it. Other test may include MRI, CT scan.

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There is no cure for Marfan syndrome but people in advance medical field are helping people live a normal lifespan. Early and accurate diagnosis is very important not only for people with Marfan syndrome but also for people with related disorders. There is more research going on in detecting this disease at early stage and also for its treatments.


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