Marfan syndrome is not a widely known genetic disorder, but according to the Marfan Foundation, 1 in 5,000 men and women of all ethnic groups around the world have this disorder. In most cases, Marfan syndrome is inherited from a parent, yet there is a 25 percent chance that a person can be the first in their family to have this condition. A parent with Marfan syndrome has a 50 percent chance of passing this disorder on to their children.
There is no cure for Marfan syndrome. When diagnosed in its early stages, treatments can help to minimize, delay, or prevent the serious complications this disorder can produce. We will explore what Marfan syndrome is, what causes this disorder, how it is diagnosed, and the common treatment options.
What is Marfan Syndrome?
Connective tissue runs throughout your body and essentially holds your body together. Connective tissue provides strength and flexibility to your bones, muscles, blood vessels, ligaments, and organs. Connective tissue also plays a vital role in helping children grow and develop properly.
People with Marfan syndrome have abnormal chemical makeup that weakens the connective tissue. Marfan syndrome can affect different parts of the body, especially the eyes, heart, blood vessels, joints, and bones. This disorder can also affect the lungs, skin and nervous system. A common life-threatening condition that people with this condition have is the enlargement of the aortic artery.
The connective tissues in our body are made up of proteins. The main protein that Marfan syndrome affects is the fibrillin-1 protein. Marfan syndrome causes a defect, or mutation, in the gene that is responsible for helping the body to make fibrillin-1. This increases the amount of protein called transforming growth factor beta, which causes problems with the connective tissue throughout the body. This results in Marfan syndrome.
