Started in 1992, the Foundation’s Help & Resource Center reaches more than 5,000 people around the world via our websites, emails, and one-on-one phone calls. Our registered nurses, Director Stephanie Amdur-Clark, MSN, RN, NP, and Janice Petrella Lynch, MSN, RN, answer a variety of medical questions from the community. Help Center Manager Kathleen Bolton offers Spanish-language services to our community. The team put together the most common questions they receive at the Help & Resource Center and their answers.
Please note: as always, if you are experiencing a medical emergency, please immediately seek emergency care. Consult your own expert providers about your particular medical needs whenever necessary. The below answers are generalized.
Question: How do I know if/when I should get evaluated for Marfan syndrome or a related condition? I believe that I may have some clinical features, and my sibling seems to have some features as well.
Answer: If you or a family member show signs of Marfan syndrome or another connective tissue condition, it is important to seek an evaluation, even if the symptoms seem mild. Key indicators like long limbs, flexible joints, eye issues (such as lens dislocation), or cardiovascular problems can point to Marfan syndrome or a related condition. Given the potential for serious complications, especially with the heart and aorta, early detection is crucial for proactive management. Schedule a consultation with a cardiologist or geneticist familiar with connective tissue conditions for a proper evaluation.
Question: What specialists should I see to be evaluated for a genetic aortic and vascular condition?
Answer: A thorough evaluation for a connective tissue condition requires a multidisciplinary approach. Start with a cardiologist for initial screening and possible imaging to assess heart and aortic health. Then referrals to a geneticist or a genetic counselor, an ophthalmologist for eye-related concerns, and an orthopedist for musculoskeletal issues can be made. Depending on your symptoms,
a pulmonologist may also be important if lung function is affected. It’s important to find specialists who have experience with these conditions.
Question: My family tells me that I should get checked and evaluated for a connective tissue condition. There’s nothing that can be done for me, so why do I need to do this? Anyway, I would rather not know.
Answer: While it’s understandable to feel apprehensive, an evaluation can open doors to vital treatments that significantly improve quality of life and help to prevent complications. Even if you feel fine now, connective tissue conditions can lead to life-threatening issues like genetic aortic and vascular aneurysms (an enlargement of the major blood vessel to the heart). Early detection allows for regular imaging, medications, and surgical interventions that can increase longevity and save lives in some cases. Knowledge truly is power—so getting evaluated isn’t just about a diagnosis; it’s about safeguarding your future.
Question: For years I have lived with various medical issues that no one has been able to figure out. Now I am wondering if I have Loeys-Dietz, Marfan, VEDS, or a related condition. I’m in my 40s. Is it too late to seek a diagnosis and care?
Answer: It’s never too late to seek a diagnosis. Many people are diagnosed later in life, especially when they’ve had unexplained symptoms for years. While earlier detection may have helped prevent some issues, getting a diagnosis now is still crucial for managing your health going forward. With proper care, you can minimize future risks, especially concerning your heart, spine, and eyes, and improve your quality of life through targeted treatments and lifestyle adjustments.
Question: Do I need to get genetic testing? Where do I go to have the genetic testing done? I hear that it is very expensive.
Answer: Genetic testing can help confirm a diagnosis of Marfan syndrome or related conditions, though a clinical diagnosis is sometimes sufficient. Testing can provide clarity for you and your family, especially when considering the hereditary nature of these conditions. Testing is typically done through a geneticist or a specialized clinic. Costs can vary, but many insurance plans cover genetic testing if medically necessary. Additionally, it is good to get long-term health insurance before genetic testing as it may be denied after genetic testing.
Read the full story in the digital version of our quarterly news magazine, Connective Issues.
Whether you’re seeking a knowledgeable doctor, a supportive community, or more information about your condition, we’re here to help. Just visit our resources page on our website at Marfan.org/resources or reach out to the Help & Resource Center team at Marfan.org/ask. You can also learn more about finding care via our Institutional Directory.
The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes. Our vision is a world in which everyone with genetic aortic and vascular conditions can live their best life.