Our community of experts estimates that nearly half the people who have Marfan syndrome, don't know it.
The Marfan Foundation
The Marfan Foundation, founded in 1981, works to save lives and improve the quality of life for people with Marfan syndrome, Loeys-Dietz syndrome, VEDS (Vascular Ehlers-Danlos syndrome), and other genetic aortic conditions. Marfan syndrome is a life-threatening genetic condition, and an early, accurate diagnosis is essential, not only for people with Marfan syndrome, but also for those with other related conditions. Marfan syndrome affects an estimated 1 in 5,000 people regardless of race, ethnicity, or gender. Our community of experts estimates that nearly half the people who have Marfan syndrome do not know it. Without proper diagnosis and treatment, they are at high risk for an aortic dissection and sudden death. Marfan syndrome affects the connective tissue, which helps to hold the body’s cells and tissues together. It also regulates how our bodies grow. Some features of Marfan syndrome are easier to see than others. These include long arms, legs, and fingers; tall and thin body type; a curved spine; sunken or protruding chest; flexible joints; flat feet; crowded teeth; and unexplained stretch marks on the skin. Harder-to-detect signs include heart problems, especially related to the aorta, the large blood vessel that carries blood away from the heart. Aortic dilation occurs in about 9 of 10 persons with Marfan syndrome and is of particular concern because it can lead to aortic dissection and sudden death. Advances in medical and surgical management have significantly increased life expectancy for people affected by Marfan syndrome, but life-saving therapies are helpful only when a person has a correct diagnosis and appropriate medical care. Ongoing research continues to expand our understanding of how genetic mutations cause the features found in Marfan syndrome. Research has identified promising new medical treatments, and has also clarified and identified related conditions that share overlapping genetic and/or medical problems with Marfan syndrome. As a result, knowing whether a person has Marfan syndrome or other related conditions is essential to providing proper, potentially life-saving medical management. The Foundation expanded its commitment to related conditions, adding divisions for VEDS (The VEDS Movement) and Loeys-Dietz (Loeys-Dietz Syndrome Foundation). The Foundation also continues to serve those with familial thoracic aortic aneurysm and dissection, MASS phenotype, ectopia lentis syndrome, Beals syndrome, bicuspid aortic valve, Stickler syndrome, and Shprintzen-Goldberg syndrome. Through our research, patient support, and education programs, The Marfan Foundation works to expand the lifespan and enhance the quality of life for everyone living with Marfan syndrome, VEDS, Loeys-Dietz, and other related conditions.
The Marfan Foundation’s Research Program was launched in 1989 with a $3,000 research grant award. In 2020, we have committed $1.7 million to support promising research by scientists and physicians at different stages of their careers. In addition, we have committed $675,000 for seven new 2020 research awards.
The research we have supported has helped reduce life-threatening problems related to Marfan syndrome and other related conditions, identified treatments that have improved quality of life, and have helped people live longer, fuller lives. We continue to support this life-changing research because there is still much to understand and because there are still many who are struggling on their medical journey. Marfan Foundation-funded research has found and continues to find new therapeutic targets and treatments that reduce the most life-threatening aspects of Marfan syndrome, LDS, VEDS, and related conditions. With the addition of the GenTAC Alliance to our family, we have a broader scientific arm of stakeholders who are the leading researchers and clinicians on the entirety of genetically triggered aortic aneurysm conditions.
Our education and awareness programs focus attention on the need for accurate, early diagnosis and proper treatment of Marfan syndrome, VEDS, Loeys-Dietz, and other related conditions. Educational resources are designed for diverse constituencies, ranging from children, teens, families, and individuals; to school nurses and coaches, emergency medicine professionals, genetic counselors, and the many medical specialties that play a role in diagnosis and treatment of these conditions. Improving quality of life is a key focus. In the past year, we have broadened the scope of our educational programs, targeting a worldwide audience and holding an international patient meeting with presentations in seven languages.
Support service programs work to provide a supportive community for all those affected. Individuals, family members, medical professionals, and other healthcare providers can contact the Foundation’s Help & Resource Center. Managed by a registered nurse and a clinical licensed social worker, the Help & Resource Center gives reassuring comfort and life-saving support for our constituents every day. Through personalized one-on-one service, the Help & Resource Center disseminates crucial information such as a directory of institutions that have experience and expertise in Marfan syndrome, LDS, and VEDS diagnosis and treatment, guidelines for families and schools, and important details on healthcare coverage and disability. The Help & Resource Center also serves as a valuable resource for medical professionals, some of whom may have little clinical experience with Marfan syndrome, LDS, and VEDS. The Help & Resource Center fields questions from physicians, genetic counselors, nurses, social workers, and other specialists seeking information on diagnosis and treatment as well as issues related to insurance, social security, legal, education and vocational problems. Extensive information is also available for cardiologists, orthopedists, ophthalmologists, and other professionals who look to the Foundation for management guidelines in their specialty areas.