- Patient Comments: Marfan Syndrome - Experience
- Patient Comments: Marfan Syndrome - Causes
- Patient Comments: Marfan Syndrome - Treatment
- Patient Comments: Marfan Syndrome - Symptoms
- Marfan syndrome definition and facts*
- What do some of the characteristics of Marfan syndrome look like (pictures)?
- What is Marfan syndrome?
- Who gets this syndrome?
- What are the symptoms of Marfan syndrome?
- What causes Marfan syndrome?
- How is Marfan syndrome diagnosed?
- What types of doctors treat Marfan syndrome?
- What treatment options are available for Marfan syndrome?
- What are some of the emotional and psychological effects of Marfan syndrome?
- What research is being conducted on Marfan syndrome?
- Where can people find additional information about Marfan syndrome?
Living with 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.
Where can I find information about clinical trials and research that's 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.
Where can people find additional information about Marfan syndrome?
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information Clearing House
National Institutes of Health
1 AMS Circle
Bethesda, MD 20892-3675
Phone: 301-495-4484 or 877-22-NIAMS (877-226-4267)
National Human Genome Research Institute (NHGRI)
National Institutes of Health
NHGRI Genetic and Rare Diseases Information Center
National Marfan Foundation (NMF)
National Organization For Rare Disorders (NORD)
March of Dimes Birth Defects Foundation
American Heart Association
The NIAMS gratefully acknowledges the assistance of the following individuals in the preparation and review of the original version of this booklet: Bernadette Tyree, Ph.D., NIAMS/ NIH; Priscilla Ciccarielo, Director Emeritus, National Marfan Foundation, Port Washington, NY; Harry C. Dietz, M.D., Johns Hopkins University School of Medicine, Baltimore, MD; Carolyn Levering and Eileen Masciale, National Marfan Foundation, Port Washington, NY; Francisco Ramirez, M.D., Mount Sinai School of Medicine of the City University of New York, NY; and Joel Rosenbloom, M.D., Ph.D., University of Pennsylvania, Philadelphia, PA.
SOURCE: National Institute of Arthritis and Musculoskeletal and Skin Diseases; NIH Publication No. 15–7844. "Marfan Syndrome." Updated: 2015
Syringoma Image Source: Color Atlas of Pediatric Dermatology Samuel Weinberg, Neil S. Prose, Leonard Kristal Copyright 2008, 1998, 1990, 1975, by the McGraw-Hill Companies, Inc. All rights reserved.