Hi and thank you so much for taking your time to respond I appreciate it.
Ok I have a copy of the echo and the aorta was measured in many places and it states aorta 2.5cm - it says the echo is normal with the exception of MVP with 1+ regurgitation. I had my eyes examined with a slit lamp and everything about 45 days ago because I have begun plaquinel for hair loss and scalp inflammation. She gave me the "ok" for the plaq and did not mention finding anything abnormal.
I have not had eye problems, my joints are sore at times but stiff and sore. I did not know about the MVP until last week.
I know you can in no way diagnose on the internet. But just via your experience with this condition is it uncommon for one to hit age 40 with no real major issues ever and still have this? Or would it be more likely that one would have something occur prior to 40 to signal a marfan issue?
Again I know you cannot give me a diagnosis but I guess I am wondering just from experience and knowledge about this disease does it typically present with something not right by mid life?
Thanks again for your time.
It is important to have a complete exam specific for Marfan syndrome to completely rule out or diagnose the condition. A medical geneticist would be the appropriate type of physician to perform a complete exam, so it is good to hear that you will be seeing a geneticist.
As you know, Marfan syndrome is a connective tissue disorder that affects many parts of the body including the eyes, skeleton, heart, and blood vessels. As part of the work-up, people often see an ophthalmologist who performs a slit-lamp examination, looking for lens dislocation. You mentioned that you had an echocardiogram. You may want to request a copy of that report to see if your aorta was measured. If not, then an echocardiogram with a measurement of the aorta is typically ordered as part of the evaluation for Marfan syndrome. There are very specific diagnostic criteria used to determine if someone has Marfan syndrome. It is not possible to determine your risk without an exam and a complete family history.
At your appointment, the geneticist will take a detailed medical and family history. The geneticist will perform a physical exam taking many measurements, such as length of your arms in comparison to your height. The information from the exam, echocardiogram, ophthalmology appointment and medical and family history are generally used to make or rule out the diagnosis of Marfan syndrome. If someone is diagnosed with Marfan syndrome, the geneticist and sometimes a genetic counselor provide information about the syndrome, discuss screening and management, implications for family members and provide support in adjusting to the diagnosis.
Marfan syndrome runs in families in an autosomal dominant manner. This means that someone with Marfan syndrome has 50% chance of passing this condition on to each child he or she has. Inheritance is not affected by gender.
Another good source of information about Marfan syndrome is the National Marfan Foundation (1-800-8-MARFAN ext 10). I hope that this information is helpful to you.