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Article title: Questions and Answers about Marfan Syndrome: NIAMS
Conditions: Marfan syndrome
Health Topics
Publication Date: October 2001
This booklet answers general questions about Marfan syndrome. It describes the characteristics of the disorder, the diagnostic process, and ways to manage symptoms. If you have additional questions after reading this booklet, you may wish to discuss them with your doctor.
Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs.
Marfan syndrome affects men, women, and children, and has been found among people of all races and ethnic backgrounds. It is estimated that at least 1 in 5,000 people in the United States have the disorder.
Marfan syndrome affects different people in different ways. Some people have only mild symptoms, while others are more severely affected. In most cases, the disorder progresses as the person ages. The body systems most often affected by Marfan syndrome are:
Marfan syndrome is caused by a defect (mutation) in the gene that determines the structure of fibrillin, a protein that is an important part of connective tissue. A person with Marfan syndrome is born with the disorder, even though it may not be diagnosed until later in life. Although everyone with Marfan syndrome has a defect in the same gene, the mutation is specific to each family and not everyone experiences the same characteristics to the same degree. This is called variable expression, meaning that the defective gene expresses itself in different ways in different people. Scientists do not yet understand why variable expression occurs in people with Marfan syndrome.
The defective gene can be inherited: The child of a person who has Marfan syndrome has a 50 percent chance of inheriting the disease. Sometimes a new gene defect occurs during the formation of sperm or egg cells, but two unaffected parents have only a 1 in 10,000 chance of having a child with Marfan syndrome. Possibly 25 percent of cases are due to a spontaneous mutation at the time of conception.
There is no specific laboratory test, such as a blood test or skin biopsy, to diagnose Marfan syndrome. The doctor and/or geneticist (a doctor with special knowledge about inherited diseases) relies on observation and a complete medical history, including
The doctor may diagnose Marfan syndrome if the patient has a family history of the disease and there are specific problems in at least two of the body systems known to be affected. For a patient with no family history of the disease, at least three body systems must be affected before a diagnosis is made. Moreover, two of the systems must show clear signs that are relatively specific for Marfan syndrome.
In some cases, a genetic analysis may be useful, but such analyses are often time consuming and may not provide any additional helpful information. Family members of a person diagnosed with Marfan syndrome should not assume they are not affected if there is no knowledge that the disorder existed in previous generations of the family. After a clinical diagnosis of a family member, a genetic study might identify the specific mutation for which a test can be performed to determine if other family members are affected.
Because a number of body systems may be affected, a person with Marfan syndrome should be cared for by several different types of doctors. A general practitioner or pediatrician may oversee routine health care and refer the patient to specialists such as a cardiologist (a doctor who specializes in heart disorders), an orthopaedist (a doctor who specializes in bones), or an ophthalmologist (a doctor who specializes in eye disorders) as needed. Some people with Marfan syndrome are also treated by a geneticist.
There is no cure for Marfan syndrome. To develop one, scientists may have to identify and change the specific gene responsible for the disorder before birth. However, a range of treatment options can minimize and sometimes prevent complications. The appropriate specialists will develop an individualized treatment program; the approach the doctor uses depends on which systems have been affected.
Pregnancy poses a particular concern due to the stress on the body, particularly the heart. A pregnancy should be undertaken only under conditions specified by obstetricians and other specialists familiar with Marfan syndrome and be followed as a high-risk condition.
While eating a balanced diet is important for maintaining a healthy lifestyle, no vitamin or dietary supplement has been shown to help slow, cure, or prevent 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 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 may be hard for a child to understand or accept.
For both children and adults, appropriate medical care, accurate information, and social support are key to living with the disease. Genetic counseling may also be helpful in understanding the disease and its potential impact on future generations.
While Marfan syndrome is a lifelong disorder, the outlook has improved in recent years. Early diagnosis and advances in medical technology have improved the quality of life for people with Marfan syndrome and lengthened their lifespan. In addition, early identification of risk factors (such as aortic dilation) allows doctors to intervene and prevent or delay complications. Advances being made by researchers provide hope for the future. With early diagnosis and appropriate management, the life expectancy for someone with Marfan syndrome is similar to that of the average person.
Scientists are approaching 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. Newly developed mouse models that carry mutations in the fibrillin gene may help scientists better understand the disorder. Animal studies that are preliminary to gene therapy are also under way.
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. Researchers are also working to develop new surgical procedures to help improve the cardiac health of people with Marfan syndrome.
National Institute of Arthritis and Musculoskeletal and
Skin Diseases (NIAMS)
National Institutes of Health
1 AMS
Circle
Bethesda, MD 20892-3675
Phone: 301-495-4484 or
877-22-NIAMS (226-4267) (free of charge)
TTY: 301-565-2966
Fax:
301-718-6366
E-mail: niamsinfo@mail.nih.gov
http://www.niams.nih.gov/index.htm
NIAMS provides information about various forms of arthritis and rheumatic disease and bone, muscle, joint, and skin diseases. It distributes patient and professional education materials and refers people to other sources of information. Additional information and updates can also be found on the NIAMS Web site.
National Human Genome Research Institute
(NHGRI)
National Institutes of Health
9000 Rockville
Pike
Bethesda, MD 20892
Phone: 800-411-1222 (free of charge) (for
information about entering a clinical study)
E-mail: prpl@mail.cc.nih.gov
NHGRI is conducting a clinical study involving men and women who have Marfan syndrome to identify responsible genes and which gene changes cause specific medical problems. They are also conducting medical tests that will lead to earlier detection of the signs and symptoms of Marfan syndrome and establishment of a reliable diagnosis.
National Marfan Foundation
382 Main Street
Port Washington, NY 11050
Phone: 800-8-MARFAN (862-7326) (free of
charge)
Fax: 516-883-8040
E-mail: staff@marfan.org
www.marfan.org
This organization helps people who have Marfan syndrome and related connective tissue disorders. It provides information and materials about the disorder and how to seek appropriate medical care. It supports research and promotes public awareness of Marfan syndrome. The Foundation can also provide the names of doctors who diagnose and treat Marfan syndrome.
American Heart Association
7272 Greenville
Avenue
Dallas, TX 75231
Phone: 800-AHA-USA1 (242-8721) (free of
charge)
E-mail: inquiries@heart.org
www.americanheart.org
The American Heart Association has a fact sheet on its Web site that describes the blood vessel and heart valve complications of Marfan syndrome. It is also a source of information on precautions doctors and other health professionals must use in treating patients who have heart problems associated with Marfan syndrome.
The NIAMS gratefully acknowledges the assistance of Harry C. Dietz, M.D., of The Johns Hopkins University School of Medicine, Baltimore, MD; Carolyn Levering and Eileen Masciale, National Marfan Foundation, Port Washington, NY; Priscilla Ciccarielo, Director Emeritus of the National Marfan Foundation; Francisco Ramirez, M.D., Mount Sinai School of Medicine of the City University of New York, NY; Joel Rosenbloom, M.D., Ph.D., University of Pennsylvania, Philadelphia; and Bernadette Tyree, Ph.D., of the NIAMS, NIH, in the preparation and review of this booklet.
The mission of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), a part of the National Institutes of Health (NIH), is to support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. The National Institute of Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse is a public service sponsored by the NIAMS that provides health information and information sources. Additional information can be found on the NIAMS Web site at http://www.niams.nih.gov/index.htm.
This booklet is not copyrighted. Readers are encouraged to
duplicate and distribute as many copies as needed. Additional copies of
this booklet are available from
National Institute of
Arthritis and Musculoskeletal and Skin Diseases
NIAMS/National
Institutes of Health
1 AMS Circle
Bethesda, MD 20892-3675
NIH Publication No. 02-5000
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