What is Reynaud's syndrome?

Do I have Marfan Syndrome?

• Well I recently discovered marfan syndrome online when I was looking up a problem I have. When I was 16 years old I got these really bad stretch marks up my back and I was also diagnosed with some kind of arthritis in my lower back. I'm now 19 years old and I think that I have a few of the symptoms of the disease. - I'm extremely thin at 5'8" 120lbs and I am male. - My chest sinks in a bit and I think it's a mild case of pectus excavatum. - I have crooked, crowded teeth with a overbite. - I have a speech problem: A lisp. (I think this may be caused by my overbite and/or crowded/crooked teeth though) - I have been very thin my entire life. - The stretch marks on my back. - I was born with a heart murmur. After discovering this disease I became worried because I think I might have it or one of the similar diseases such as Loeys-Dietz syndrome, Congenital Contractural Arachnodactyly (CCA) or Beals Syndrome, Ehlers-Danlos syndrome, Homocystinuria, MASS phenotype, Shprintzen-Goldberg syndrome, Stickler syndrome, or Multiple endocrine neoplasia, type 2B. I also have other problems that may or may not be related. On very rare occasions my knee locks. This happens once every few months or maybe even once a year and it usually happens when I am sitting around or laying in a weird position. My bones ALL crack. Knuckles, fingers, toes, chest, back, knees, neck, and sometimes even my wrists. Last month I had some pretty bad chest pain so I went to the walk in clinic down the street from my house. The doctor there sent me for a EKG or ECG I don't remember the name but it was a heart test and some blood work. She said she was sending me for a EKG for a irregular heartbeat, I figured it was just my murmur though. The next day I went for my blood work, but later that day my chest pain got so severe that I went to the emergency room at the hospital. They did a EKG or ECG and said that my heart sounded 100% fine. The emergency doctor also said that the only reason I was getting this chest pain was because I was developing an infection or it was just muscle pain and I could only wait it out. She also said that I didn't appear to have a heart murmur anymore. So I waited it out and just as she said my pain went away 2 days later, so I guess she was right and the doctor at the clinic was wrong. I have also been trying to gain weight because I'm such a small guy and it seems that every doctor I tell just laughs. They say I am small like this because my father wore a size 28/32 jeans his entire life (he was very thin) but when he reached 40 he started to get fat and now wears a 36/32, I wear 30/32. They say it will hit me when I'm older and I will gain but I don't know... They also do not think I suffer from marfan syndrome or anything similar. They say I am just a small guy and the bad back is from genetics. They blame the stretch marks on a height growth spurt. The lisp is blamed on my teeth, which I think it is from too but hey better safe than sorry right? They also say that my chest will fill out when I'm older but shouldn't that have already happened? I mean I'm 19 and I am pretty sure that I am done with puberty. The only thing I can see happening to me at this point is more chest hair growing in. I'm sorry this was so long but basically the doctors all say "calm down you don't have marfan syndrome it's VERY rare." I am genuinely worried though and I want to find out if I have this disease because I would rather not die at a young age, I want a family and all that good stuff. So either the medical care where I live is just bad (Canada). Or I am worrying to much for nothing. What do you guys think?

• Answer:

  Ok, let's address this step by step. You do have some symptoms of Marfan syndrome or some related disorders, but you're a little hasty going off on that whole long list. Some of those disorders cancel each other out. For instance, people with Marfan, LDS, and EDS are very, very flexible. People with Beals syndrome are not. Shprintzen-Goldberg syndrome usually carries with it mental retardation. LDS has some very distinct physical features that are different from Marfan, like wide-spaced eyes, club feet, and a split uvula. It's dramatic to list all of those and if you do to a doctor, they're not going to take you seriously. The problem is that those symptoms you've listed all also appear in the general population (and speech problems and cracking bones are not diagnostic symptoms of Marfan). There is a series of criteria that you need to meet in order to be diagnosed with Marfan or a related disorder, and that's much more extensive than what you've listed. The only way to rule out Marfan is to have one of the following tests done to check your entire aorta: echocardiogram, MRI, CT, or TEE. You also need a complete eye exam, including a slit lamp test, and certain skeletal measurements taken. Being tall and thin isn't enough: there are certain ratios we look for when diagnosing Marfan. I am NOT NOT NOT saying you don't have Marfan. I am saying you need further evaluation. Now, some of the things your doctors told you are wrong. For example, pectus excavatum doesn't "fill out" with age. It's a permanent change. Also, Marfan is NOT that rare. It's estimated that 1 in every 5,000 - 7,000 people has it. And, only about half of those people are aware that they have the diagnosis. That's much more common than say, cystic fibrosis. When you have chest pain, an EKG will rule out a heart attack, but it would not rule out an aortic dissection, which is the big risk with Marfan. To rule out an aortic dissection, you would need one of the tests I mentioned above. Bottom line: If you're concerned about Marfan or a related disorder, keep pushing for follow-up. Don't freak yourself out too much in the meanwhile because the few symptoms you've listed could very well turn out to be nothing. There are lots of Marfan-knowledgeable doctors in Canada. There is even a Canadian Marfan foundation. My suggestion is to look them up online and contact them for doctor recommendations. Also, what the nurse above wrote is wrong. You do NOT have to be tall to have Marfan!!! And, you can't expect that your doctor would have caught it early. Lots of people I know were diagnosed as adults, and not everyone can do that thumb sign. Marfan is a syndrome, NOT a disease, so that means not everyone shows the same symptoms. Good luck!