February is Marfan Awareness Month, dedicated to raising awareness about Marfan syndrome, which is a genetic condition that affects the body’s connective tissue.
Additionally, tomorrow, Feb. 28, is Rare Disease Day, raising awareness and driving change for the 300 million people worldwide living with a rare disease, their families, and their caregivers.
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.
About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About three out of four 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. NCDHHS' Genetic Counseling Services can provide information about where people can find testing for Marfan Syndrome.
Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body. 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.
Experts estimate nearly half of the people living with Marfan syndrome don't know it yet – highlighting a public health issue. People with Marfan Syndrome are at up to 250 times greater risk of aortic dissection.
Early detection, monitoring, and treatment are vital because about 50% of people with an aortic dissection will lose their lives before reaching the hospital. Awareness is key to saving lives: Knowing the signs saves lives.
Easy to see signs:
- Long arms, legs and fingers
- Tall and thin body type
- Curved Spine
- Chest sinks in or sticks out
- Flexible joints
- Flat feet
- Crowded teeth
- Stretch marks on the skin that are not related to weight gain/loss
Harder to see signs:
- Heart problems, especially related to the aorta
- Sudden lung collapse
- Eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts