10 Things You Didn’t Know About Marfan Syndrome
News This rare genetic disorder affects 1 out of every 5,000 people. Here's what you need to today.
1. Underlying connections
Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds the body's organs and tissue together and plays an important role in a person's growth and development.
2. Surprise guest
Though people are born with the disorder, features of Marfan syndrome are not always immediately apparent. Symptoms can emerge at any time and at any age. It is estimated that half of the people with Marfan syndrome are unaware they even have it.
3. Different strokes
Marfan syndrome can affect many different parts of the body, including the heart, eyes, and joints, and each person is affected differently.
4. Some but not all
While no one has every feature of Marfan syndrome, some signs include a tall and thin body type, curved spine, a sunken or protruding chest, flexible joints, flat feet, crowded teeth, stretch marks unrelated to weight gain or loss, and long arms, legs and fingers.
5. Other signs
Other signs of Marfan syndrome include heart problems (especially those related to the aorta), sudden lung collapse and eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts. Special tests are often needed to detect these features. Aortic enlargement is a complication that can be life-threatening.
6. Equal opportunity
Marfan syndrome affects men and women of all races and ethnic groups.
7. A likely inheritance
Three out of four people inherit the disease, and there is a 50 percent chance of a person with Marfan syndrome passing it along each time they have a child.
8. Speed matters
It is important for people with Marfan syndrome and related disorders to receive a diagnosis as soon as possible. Without swift treatment, they can be at risk for life-threatening complications.
9. Faulty communication
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, which causes problems in connective tissues throughout the body.
10. Progressive but not oppressive
Some features of Marfan snydrome are progressive, meaning they can worsen as people age. While there is no cure for Marfan syndrome, with regular monitoring and treatment most people can expect to live a normal life span.
Doctors often prescribe blood pressure lowering drugs to prevent aortic enlargement. Surgeries and other procedures may also be necessary or suggested, including aorta repair, scoliosis treatment, breastbone corrections, and eye surgeries.