I think I may have Marfan syndrome, what should I do?

Question

I have recently read some stuff about Marfan Syndrome and i have many of the symtoms. They say to have the syndrome you need to have 3 of the skeletal tell-tale signs and 1 of the other signs.

symptoms I have:

1 symptom is gigantism, im not a giant but im about 6'2.

2. I have a large wingspan for my height 2m (6'7)

3. I have long limbs

4. I have "spider fingers" (i forget the real name for this symptom).

5. I have vision problems (glaucoma i think) that are like identical to the ones listed.

6. I was diagnosed with anxiety and have had panic attacks. but that might actually have something to do with aortic value. difficulties which is one of the symptoms.

I have had vision problems since gr 8 and heart problems (panic attacks, palpitations) since gr 10, im now entering gr 12 this year (2008-2009) what should I do? Should I see a doctor? what are the chances I have it?plz i need answers!

Answer 1

see your doctor, there are some measurements they can do to determine if you do have it.

Answer 2

There are many ctd's and they overlap some symptoms, some more serious than others.  Marfan is one that can be life-threatening.

I would start by printing out the diagnostic criteria on marfan.org (easiest found by putting diagnostic criteria in the search box on home page) and filling that in.  Then take it to your doctor and discuss.  You do list some of the skeletal but not sure really match the list exactly.  For one most have some joint or back curvature.

You sound concerned about your heart so I would ask the gp for a referral to a cardio with echo scheduled for your visit, unless you have had one.  Without having one not sure how you jump to "having aortic valve difficulties".    My guess is that if you get checked out the panic attacks may go away so not wondering quite so much what could be ahead.  

Next I'd see an ophthamologist and have slit-lamp test, while glaucoma is common, there are other issues that play into diagnosis more I think.

All that said the most important thing is to be sure and have referrals to doctors familiar with Marfan and ctd's or you could get bad information.  Ask questions, ask measurements from tests...  Don't let it cause you not to live.  With a few precautions you can live a very close to normal life unlike those 20-30 years ago.  Don't let anyone tell you anything less than average age etc.  If they do, they haven't kept up on their research!

If I can help you through any of the checklist let me know.  There are also a lot of support groups online - all the major networks have them.  One that is a mix including posting messages and chats is Yahoo - Marfans support and chat.  They are usually very helpful in helping know what to ask doctors.  There are also a lot of private message boards and websites.