Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.
Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders.
Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence.
Who has Marfan syndrome?
About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.
Knowing the signs of Marfan syndrome can save lives
People with Marfan syndrome are born with it, but features of the disorder are not always present right away. Some people have a lot of Marfan features at birth or as young children – including serious conditions like aortic enlargement. Others have fewer features when they are young and don’t develop aortic enlargement or other signs of Marfan syndrome until they are adults. Some features of Marfan syndrome, like those affecting the heart and blood vessels, bones or joints, can get worse over time.
This makes it very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment. Without it, they can be at risk for potentially life-threatening complications. The earlier some treatments are started, the better the outcomes are likely to be.
Knowing the signs of Marfan syndrome can save lives, nearly half the people who have Marfan syndrome don’t know it.
Below is a short summary of Marfan syndrome features.
Heart and blood vessels (cardiovascular system)
* Enlarged or bulging aorta, the main blood vessel that carries blood from the heart to the rest of the body (aortic dilation or aneurysm)
* Separation of the layers of the aorta that can cause it to tear (aortic dissection)
* “Floppy” mitral valve (mitral valve prolapse-MVP)
Bones and joints (skeletal system)
* Long arms and legs
* Tall and thin body type
* Long, thin fingers
* Curvature of the spine (scoliosis or kyphosis)
* Chest sinks or sticks out
* Flexible joints
* Flat feet
* High-arched palate
* Teeth that are too crowded
Eyes (ocular system)
* Severe nearsightedness (myopia)
* Dislocated lens of the eye
* Detached retina
* Early glaucoma
* Early cataracts
* Sudden lung collapse
* Sleep apnea
Other body systems
* Stretch marks on the skin that aren’t explained by pregnancy or weight gain or loss
* Swelling of the sac around the spinal column (dural ectasia, found with CT or MRI scans of the back)
This is what medical research have found about Marfan Syndrome. This information and more can be found and was extracted from the Marfan Foundation web page http://www.marfan.org
The image was extracted from an online post.
I want to expand the awareness of this generic desease so people can benefit from this information and save lives. Early treatment is really important. I found out I had it in 2012 while I was having a Cataract Surgery on my left eye. By now, is the only eye I’m using. I will soon have another surgery on the same eye (yag surgery)
I have scoliosis, leakage in the triscospic valve, major cataract in my right eye, dypnea at night, I believe emphysema although it has not been diagnosed. I’m on 3-4 litters of oxígen 24/7. Life is súper though some days. Others are the “best”.
I love life and I’m living one day at a time. I never had a surgery on my back although I was hours away from having it when I was 18. I’m glad I’m still alive. I know that my life span prediction is 40 without treatment but I know my body won’t resist any major surgery.
I really hope people can benefit from this info and understand a little more about this genetic disorder.
As for Marfans, we get to experience it, every day is a blessing and every night a victory! ❤️