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Marfan’s Syndrome: Symptoms, Causes, Diagnosis, and Treatment


Marfan’s syndrome is a genetic disorder that affects the body’s connective tissue. While it’s not widely known or commonly heard of, according to The Marfan Foundation it affects 1 in 5,000 people. More often than not it’s inherited, so it’s typically passed down through families. So unless someone in your family is affected, you might not know much about it. To learn more about this condition, this article explores everything there is to know, including the symptoms, causes, diagnosis, and treatment.

1. What is Marfan Syndrome?

As we previously mentioned, Marfan syndrome is a disorder that affects the body’s connective tissue. These connective tissues are super important because not only do they hold all the body’s cells and organs together, but they also help our body grow and develop. The Marfan Foundation explains that our bodies connective tissues are made up of proteins and the protein that Marfan syndrome affects is fibrillin-1. “Marfan syndrome is caused by a defect (or 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-β,” writes the source. “The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related conditions.”

As we all know, connective tissue runs throughout our body which also means that Marfan syndrome can affect different parts of the body. The most common places that the features of this disorder are found in the heart, blood vessels, bones, joints, and eyes. The Marfan Foundation gives some examples of common Marfan features were are aortic enlargement which can be life threatening, but the skin, lungs, and nervous system can be affected as well. What is most definitely not affected is the patients intelligence, says the source.

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