About Marfan Syndrome
Marfan syndrome is a progressive genetic disorder that affects the body's connective tissue. Connective tissue is everywhere in the body, providing structure and support for cells. Think of it as a sort of "glue" that helps support every organ, blood vessel, bone, joint, and muscle.
In people with Marfan syndrome, this "glue" is weaker than normal because of a defect in the body's production of the protein fibrillin, a major component of connective tissue. Weakened connective tissue can lead to problems in many parts of the body, especially the heart, eyes, and bones.
Even though the disease has no cure, the good news is that doctors can successfully treat just about all of its symptoms. Just a few decades ago, most people with Marfan syndrome didn't live past 40. Now, thanks to new research and treatments, those who are diagnosed early and get good medical care have just about the same lifespan as everyone else.
Current research on a group of medications called ACE inhibitors appears extremely promising and is likely to further improve the health of people with Marfan syndrome.
Marfan syndrome is pretty rare, affecting about 1 in every 5,000 people. Researchers have traced the disorder to a defect in a gene found on chromosome 15. It's this mutation (change) that causes the abnormality in the production or the structure of fibrillin.
About 75% of the time, the gene for Marfan syndrome runs in families, getting passed down to kids from parents who have the disease. The gene is autosomal dominant, which means every child born to a parent who has Marfan syndrome has a 50% chance of having it too.
In the remaining 25% of cases, though, neither parent has the disease; the genetic mutation responsible for Marfan syndrome occurs spontaneously in either the egg or sperm cell at the time of conception. No one knows what causes this mutation, but those born with it have a 50% chance of passing it on to their kids.
Although people with Marfan syndrome often have similar physical features, the disease doesn't affect everyone in the same way. Some have very mild symptoms, while others have severe ones — even within the same family. This is known as "variable expression," and it makes it almost impossible to predict how the disease will progress in any affected individual.
Note: All information is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor.
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