Marfan Syndrome

What are some of the emotional and psychological effects of Marfan syndrome?

Being diagnosed and learning to live with a genetic disorder can cause social, emotional, and financial stress. It often requires a great deal of adjustment in outlook and lifestyle. A person who is an adult when Marfan syndrome is diagnosed may feel angry or afraid. There may also be concerns about passing the disorder to future generations or about its physical, emotional, and financial implications.

The parents and siblings of a child diagnosed with Marfan syndrome may feel sadness, anger, and guilt. It is important for parents to know that nothing that they did caused the fibrillin-1 gene to mutate. Parents may be concerned about the genetic implications for siblings or have questions about the risk to future children.

Some children with Marfan syndrome are advised to restrict their activities. This may require a lifestyle adjustment that is hard for a child to understand or accept.

For both children and adults, appropriate medical care, accurate information, and social support make it easier to live with the disease. Genetic counseling may also be helpful for understanding the disease and its potential impact on future generations.

While Marfan syndrome is a lifelong disorder, the outlook has improved in recent years. As early as the 1970s, the life expectancy of a person with Marfan syndrome was two-thirds that of a person without the disease; however, with improvements in recognition and treatment, people with Marfan syndrome now have a life expectancy similar to that of the average person.

What research is being conducted on Marfan syndrome?

Several years ago, National Institutes of Health (NIH)-funded researchers found that losartan, a common blood pressure medication, also affected a molecular pathway involved in aortic weakening and rupture, an often fatal complication of Marfan syndrome.

Numerous studies are underway that should lead to a better understanding of Marfan syndrome and its treatment. They include a plan to identify the factors responsible for the cardiovascular manifestations of Marfan syndrome, a study to better understand the process that leads to skeletal manifestations, and studies to clarify the role of a chemical messenger called transforming growth factor-beta (TGF-β) in the disorder. Some of the most recent studies are identifying new potential therapeutic targets for Marfan syndrome.

Scientists are conducting research on Marfan syndrome from a variety of perspectives. One approach is to better understand what happens once the genetic defect or mutation occurs. How does it change the way connective tissue develops and functions in the body? Why are people with Marfan syndrome affected differently? Scientists are searching for the answers to these questions both by studying the genes themselves and by studying large family groups affected by the disease. Mouse models that carry mutations in the fibrillin-1 gene may help scientists better understand the disorder. Animal studies that can provide preliminary information for gene therapy are also underway.

Other scientists are focusing on ways to treat some of the complications that arise in people with Marfan syndrome. Clinical studies are being conducted to evaluate the usefulness of certain medications in preventing or reducing problems with the aorta.

For example, research has shown that the blood pressure medication losartan prevents aortic aneurysms in a mouse model of Marfan syndrome. Studies receiving funding are now underway to determine whether the drug has the same beneficial effect in people.

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