Monday, January 31, 2011

February is Marfan Awareness Month



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.

6 comments:

Nichol said...

I have never heard of this, thanks for the information!

Jaime said...

My husband and daughter both have Marfan Syndrome. Thank you for calling this post -- spreading awareness allows us to better treat the syndrome!!!

3D Living Center said...

Thank you for your post. We just learned about Marfan Syndrome in 2009, when our 24 year old son spent 40 days in the hospital as a result of Marfan related aneurysm and open heart surgery. Thankfully he survived. Resource information is essential to the families as they journey together with their loved ones.

February - a month for celebrating love, and remembering matters of the heart, and ours is fuller for the gift of more time with our son, that nearly wasn't an option.

Life is the School, Love is the lesson - and humanity is our opportunity. Thank you!

Teri L said...

Thanks for posting this. My 15-yr-old has Marfan Syndrome, diagnosed almost two yrs. ago in large part because of her physical appearance. We were in the ER for a sprained ankle but a doc picked up on her flat foot as well as long arms and legs and her height - 6ft. tall but only 115 lbs. We had 3 specialist appts. that week and while it was scary at first, it's at the point where she sees her 8 (!) specialists once or twice a year now to monitor her. Education is key so thanks again for this. If anyone is interested, there is a post to share on FB, Twitter, whatever, naming Feb. as Marfan Syndrome Awareness month at NMF.com, the National Marfan Foundation home page. Check it out!

Anonymous said...

Thank you for posting this. My son was diagnosed this past summer at age 11, a spontaneous mutation. It can be overwhelming but thankfully the National Marfan Foundation is a source of information and hope. Thank you for helping us educate people about this syndrome that is not well publicized.

Kayla @ TheEclecticElement said...

I've never heard of this before, but now thanks to your post, I'm more aware!

Thank you :)