Marfan Syndrome
Marfan syndrome is something that people are born with but they may know this until later in life but some of the features can appear at any age. 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.
Some people have many characteristics at birth or as young children. Other people develop aortic enlargement, as teens or even as adults. Some features are progressive, meaning they can get worse as people age.
All of this makes it very important for people with Marfan syndrome to have ongoing monitoring, especially for life-threatening aspects of the condition like aortic enlargement.
Some treatments can prevent symptoms from getting worse and ultimately save lives therefore an accurate and early diagnosis helps to ensure proper treatment.
How does it affect families?
Around 1:5000 people have Marfan syndrome, these people include men and women of all ethnic groups and race. Around 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. 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 around a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.
What are the symptoms of Marfan syndrome?
Every person has a different experience with Marfan syndrome. No one has every feature and people have different combinations of features. Some features are easier to see than others.
These include:
- Curved spine
- Flat feet
- Stretch marks on the skin that are not related to weight gain or loss
- Long arms, legs and fingers
- Tall and thin body type
- Chest sinks in or sticks out
- Flexible joints
- Crowded teeth
There are harder-to-detect signs which include heart problems, especially those related to the aorta, the large blood vessel that carries blood away from the heart to the rest of the body. Other signs can include sudden lung collapse and eye problems, including severe near-sightedness, dislocated lens, detached retina, early glaucoma, and early cataracts. Special tests are often needed to detect these features.
This article is intended to inform and give insight but not treat, diagnose or replace the advice of a doctor. Always seek medical advice with any questions regarding a medical condition.
