This website contains a great deal of information covering a wide range of topics. Following are a few of the most commonly asked questions.
What is Marfan syndrome? How many people are affected? Is it always inherited?
Marfan syndrome is a genetic disorder of the connective tissue that can affect the skeleton, eyes, heart and blood vessels. It is estimated that more than 200,000 people in the U.S. are affected by Marfan syndrome or a related connective tissue disorder. Marfan syndrome is often hereditary, but approximately 25-30% of affected people are the first in their family to have the disorder. Thousands do not even know that they are affected.
How long can people with Marfan syndrome live? Why is it so important to get an early diagnosis?
There is no cure for Marfan syndrome, but with an early diagnosis, proper treatment and careful management of the disorder, it is possible for people to live a normal life-span.
What are the features of Marfan syndrome?
Because connective tissue is found throughout the entire body, the disorder manifests itself in many body systems. The most common features are:
- Tall stature - affected people are usually, but not always, taller than other people in their family
- Arms, legs, fingers and toes are disproportionately long, as compared to the trunk
- Indented or protruding chest bone
- Flat feet
- Dislocated lens
What is the most dangerous part of Marfan syndrome?
People with Marfan syndrome are at risk of aortic enlargement. Without proper management, i.e., drug therapy and lifestyle modifications, the aorta (the large blood vessel that carries blood away from the heart) is prone to enlarge and could dissect (tear) or rupture. An aortic rupture is usually fatal.
How is Marfan syndrome treated?
People with Marfan syndrome should be treated by a physician familiar with the condition and how it affects all body systems. Careful management includes:
- Annual echocardiogram to monitor the size and function of the heart and aorta.
- An initial eye exam by an ophthalmologist, including a slit-lamp exam, with periodic follow up exams.
- Careful monitoring of the skeletal system by an orthopedist, especially during childhood and adolscence.
- Beta-blocker medications may be prescribed to lower blood pressure and, consequently, reduce stress on the aorta.
- Lifestyle adaptations to reduce stress on the aorta.
More information about treatment can can be found in the Living with Marfan Sydnrome section.
Where can I get more information about Marfan syndrome?
Conact the NMF's Information Resource Center. A registered nurse and a social worker are available Monday through Friday 9-5 eastern standard time by calling (800) 8-MARFAN. You can also ask a question by email and we will get back to you.
The National Marfan Foundation
The National Marfan Foundation is a non-profit voluntary health organization dedicated to saving lives and improving the quality of life of individuals and families affected by Marfan syndrome and related disorders by:
- Educating affected individuals, family members and the health care community about Marfan syndrome.
- Advocating and funding clinical and molecular research into the early detection and treatment of Marfan syndrome.
- Providing a network of local and special-interest support groups to help affected people and their families share experiences.