Marfan Syndrome
I’ve just received this information from US charity National Marfan Foundation.
So what is Marfan syndrome you ask? 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: www.marfan.org/marfan and check out this special video PSA: http://www.westglen.com/online/marfan.html
By simply spreading awareness to your readers, you can help reduce deaths from Marfan syndrome. I would really enjoy collaborating with you on this effort. If you’re interested, I would be happy to send over more information. Thank you for your time and I look forward to your thoughts.
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