Marfan’s syndrome is a genetic disorder that affects the body’s connective tissues. 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’s Syndrome?
As we previously mentioned, Marfan syndrome is a disorder that affects the body’s connective tissues. These connective tissues are super important because not only do they hold all the body’s cells and organs together but also they 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’s syndrome and some related conditions,” adds the source.
As we all know, connective tissues run throughout our body, which means that Marfan’s syndrome can affect different parts of the body. The most common places that the syndrome manifests are found in the heart, blood vessels, bones, joints, and eyes. The Marfan Foundation gives some examples of common Marfan features, such as aortic enlargement, which can be life threatening, but the skin, lungs, and nervous system can also be affected. The intelligence of patients is most definitely not affected.