About Marfan Syndrome and Related Disorders
Your body’s connective tissues bind and support important structures like cells and organs. These tissues break down over time in people with Marfan syndrome and similar disorders. This can lead to damage in vital organs and other structures.
Two of the most dangerous complications are aortic aneurysm and aortic dissection. An aortic aneurysm results when one of the body’s main blood vessels, the aorta, becomes weak and enlarged. Eventually, the aorta can tear or dissect, which is life-threatening.
Marfan, Loeys-Dietz, Ehlers-Danlos syndrome and the more severe Vascular Ehlers-Danlos syndrome, and other connective tissue disorders are congenital, meaning they are present from birth. Many people have a mix of common physical characteristics, including being very tall and having long limbs and fingers, crowded teeth, and flat feet. However, not everyone has these signs, and many people do not experience symptoms and/or are not diagnosed until later in life.
Tests for Marfan Syndrome and Other Connective Tissue Disorders
There are two main ways to diagnose Marfan syndrome and other connective tissue disorders: a comprehensive evaluation and genetic testing. To make a definitive diagnosis, your doctors will use established criteria and your test results.
Comprehensive Evaluation
Because connective tissue disorders are hereditary, your doctor will take time to understand your family history. You’ll undergo a detailed physical exam to look for common physical signs. Simple tests, like measuring your arm span, can be done in your doctor’s office. Your doctor may also refer you for an eye exam or imaging tests like an echocardiogram, a CT scan, or an MRI.
Genetic Testing
Marfan, Loeys-Dietz, and related disorders are caused by a genetic mutation. Blood tests can detect these mutations. Genetic testing may be performed to confirm a diagnosis.
Managing Marfan Syndrome and Other Connective Tissue Disorders
While these disorders are not curable, there are many ways you can optimize your health.
Genetic Counseling
Most people inherit Marfan syndrome from a parent, but about 25% of people are the first person in their family to have the disorder. Genetic testing and counseling can help you understand how a Marfan or CTD diagnosis could affect your children.
Regular Health Monitoring
Your care team will create a customized, lifelong monitoring plan for you. You may undergo routine imaging scans and attend regular doctor appointments to reduce the risk of potential complications.
Lifestyle Changes and Physical Restrictions
In addition to maintaining healthy habits like following a nutritious diet and getting enough sleep, your doctor may recommend that you stick to low-impact and low-intensity exercise options like walking or swimming. Contact sports and certain physical activities that put too much strain on your heart could be dangerous.
Medications
If it is determined that your aorta is enlarged or is at risk of enlargement, you may be prescribed medications that lower blood pressure to reduce your risk of aortic aneurysm and dissection.
Vision Correction
Ophthalmologists may prescribe glasses or contact lenses if you have vision problems due to Marfan syndrome or another CTD.
Scoliosis Care
Scoliosis may need to be addressed with physical therapy, bracing, or other treatments.
