
I do not personally know anyone personally affected with Marfan syndrome, but would like to give my readers awareness of this disorder during the month in which it is being recognized.
Approximately 200,000 Americans have Marfan syndrome or a related disorder, yet experts say that about half of those are not diagnosed. Marfan syndrome is a disorder of the connective tissue. Connective tissue holds all parts of the body together and helps control how the body grows. As a result, Marfan syndrome features can occur in many different parts of the body, including the eyes, bones and joints, and heart and blood vessels.
People with Marfan syndrome frequently have telltale signs that are easy to see.
They are often taller than unaffected family members, with disproportionately long arms and legs. They may have an indented or protruding chest bone and a curved spine, flat feet and loose joints. They may be nearsighted and have dislocated lenses in their eyes. What can’t be seen is the effect of the condition on the aorta. It is prone to enlarge and could tear or rupture – leading to a sudden, early death – if it’s not treated.
It is a genetic condition, so people are born with Marfan syndrome, but outward signs may not be evident until the teens or 20’s. However, even if the outward signs are not evident, the aorta may be enlarged and needs to be treated and monitored from a young age. Three-quarters of people with the condition inherit it from a parent, but one-fourth are a spontaneous mutation, which means they are the first in their family to be affected.
If you or someone you know has any of these features, an evaluation is necessary. New diagnostic criteria have been defined for those with a family history of the condition and for those who may be a sporadic case.
For even more information, tips and resources, you may visit the website for the National Marfan Foundation.
I received no compensation for this post. This post is for informational purposes only. Please do your own research regarding products and services. Your opinions and results may vary.