Can someone have a combo of connective tissue disorders such as Marfan Syndrome and Ehlers Danlos syndrome?
I am a very short statured person which is not typical of a marfan patient although i am very thin and lengthy which is a marfan trait but i dont have the chest deformities associated with marfan i also have hyperelastic skin which is a sign of eds and my veins easily show another trait i have is thin nose and lips etc and yet i have serve scoliosis i thought i might eds and have which is called marfanoid habitus but with research i’ve done is people with marfanoid habitus only have a few features of marfan and dont meet the citeria aka aren’t full blown i meet both citeria back so is it possible to have both?
i have family history of both disorders also i have been the doctors for ehlers danlos and marfan i was told that it don’t matter if i have a combo of both or not because there is no cure they treat marfan and ehlers danlos the same with surgeries and meds etc and there is no fool proof test for marfan only citeria and if its the hypermobile type of eds theres no genetic test
July 1st, 2010 at 11:01 am
Is somebody a hypochondriac?
July 1st, 2010 at 11:47 am
I can’t help you much with Marfan, but it is certainly possible to have multiple connective tissue disorders.
There are laboratories, now, that are able to ascertain the gene mutations of ED. Also, since they’re both autosomal dominant conditions, and you have a family history of both, it’s entirely possible to have both.
Both conditions are treated by treating symptoms and occupational therapy, so I undersand why your physicians would say that a definite diagnosis isn’t the most important; they just want to see what helps you.
Best of luck to you~
July 1st, 2010 at 12:47 pm
It could be more costly to test you to see if you have one disease or the other given they both are caused by a similar mutation on the exact same gene. Doctors probably just tell you not to worry too much about it because they want you to no waste money. Both diseases have no magical cure, you just live with it, get check-ups to see if your heart is fine and be good buddies with an orthopedist to get checkups on trouble joints.
I’m on a simialr boat as you. I could have either disease. I’m short (everyone in my family isn’t really tall in American standards), very slim and thin looking with very thin bones (I get called anorexic a lot ¬¬), my chest is deformed, I have elastic joints and I have some probematic joints. I can dislocate my left shoulder a bit at will for example.
I’m the only person in my family with these traits and I don’t really have the cash to get tested more specifically. I’ll do it someday more for sheer curiosity than anything else since flexible joints can’t really kill you and I don’t seem to have major heart problems or I would have fainted doing exercise a long time ago.
July 1st, 2010 at 1:03 pm
Yes it is possible to have multiple connective tissue disorders the way labeling is today. You will also find that many doctors will tell you it is multiple or unspecified at the moment. More and more groupings are being made all the time so it is a fast changing community – ie one of the newest being Loeys-Dietz which most people had previously been diagnosed with Marfan or EDS type 4. Also every symptom isn’t visible or existing at a certain age. I have Marfan (dx at moment at least) but using most checklists didn’t have enough of the “major” symptoms to be classified although my doctors did note it in their charts but didn’t tell me. You are right there are no “cures” at the moment but knowledge is powerful. It gives you the chance to find good doctors, if I’d seen more knowledgable doctors they would have at least monitored me and I would have known before “the worst” possibility happened. You have to be your own advocate and find doctors who know and have had patients or you won’t get good answers. While no cures exist, there are treatments that have raised life expectancy to the mid 70′s at least so basicly normal old age verses 15 years ago when was much younger.
Many doctors may dismiss you because of height just as some of mine did because of weight but that shows their lack of knowledge. Syndromes are groupings of symptoms and not every one is needed, so being short does not rule out Marfan…. I know people with marfan that are about 5’2″, and height can also be in respect to what is expected in a family also.
There is a wealth of information on the National Marfan Foundation and related disorders website marfan.org. If you want some life experience knowledge feel free to join Yahoo group: Marfan_support_and_chat and join in the chats. Usually at least one person there with multiple or possible multiple disorders.