How Is Marfan Syndrome Diagnosed?
Your doctor will diagnose Marfan syndrome based on your medical and family histories, a physical exam, and the results of tests. He or she also will consult a set of guidelines, called Ghent criteria, used to diagnose Marfan syndrome. Marfan syndrome can be hard to diagnose. This is because the signs, or traits, of Marfan syndrome are the same or similar to the signs of other connective tissue disorders. If you’re diagnosed with Marfan syndrome, all of your first-degree relatives also should be checked for the disorder. This is because, even in families, the outward traits of Marfan syndrome may vary quite a bit.
Your doctor will diagnose Marfan syndrome based on your medical and family histories, a physical exam, and test results. He or she also will consult a set of guidelines called Ghent criteria, which are used to diagnose Marfan syndrome. Marfan syndrome can be hard to diagnose. This is because its signs, or traits, are the same as or similar to the signs of other connective tissue disorders. If you’re diagnosed with Marfan syndrome, all of your first-degree relatives (for example, parents, siblings, and children) also should be checked for the disorder. This is because, even in families, the outward traits of Marfan syndrome may vary quite a bit.
