Marfan syndrome is a rare disorder. It causes a defect in the body’s connective tissue. This tissue is common throughout the body. It holds the body together and supports many of its structures. As a result Marfan syndrome affects many organ systems, including:
Marfan syndrome is caused by a defect in a gene. The gene controls a protein needed to build connective tissue.
In almost all cases, the defective gene is passed from a parent. In very rare cases, the defect can be caused by a mutation.
Factors that increase your risk of Marfan Syndrome include:
Symptoms of Marfan syndrome range from mild to severe. It can affect one or many parts of the body. Some symptoms may be evident at an early age. Others may develop later in life. Some symptoms may worsen with age.
Symptoms are listed according to parts of the body they affect:
Marfan syndrome is difficult to diagnose. There is no specific test for the condition. A doctor can diagnose Marfan syndrome by:
There is no cure. Treatment is aimed at preventing or reducing complications or symptoms.
Treatment may include:
RESOURCES:
American Academy of Family Physicians
http://www.aafp.org/
The National Marfan Foundation
http://www.marfan.org/
CANADIAN RESOURCES:
Canadian Family Physician
http://www.cfpc.ca/cfp/
The Canadian Marfan Association
http://www.marfan.ca/
References:
American Heart Association website. Available at: http://www.americanheart.org/presenter.jhtml?identifier=1200000 .
Mayo Foundation for Medical Education and Research website. Available at: http://www.mayo.edu .
The Merck Manual of Medical Information . 17th ed. Simon and Schuster, Inc.; 2000.
Moura B, Tubach F, Sulpice M, Boileau C, Jondeau G, Muti C, et al; Multidisciplinary Marfan Syndrome Clinic Group. Bone mineral density in Marfan syndrome. A large case-control study. Joint Bone Spine . 2006 Sep 14
National Institute of Arthritis and Musculoskeletal and Skin Disorders website. Available at: http://www.niams.nih.gov/ .
Travis J. Medicine. Old drug, new hope for Marfan syndrome. Science . 2006 Apr 7;312(5770):36-7.
Last reviewed January 2009 by Rosalyn Carson-DeWitt, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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