Member Comments are provided by individuals and reflect their personal opinions only. Under NO circumstances should you act on any advice or opinion posted in this forum. ALWAYS check with your personal physician before taking any action regarding your health! MedHelp International and our partners, sponsors and affiliates have no obligation to monitor any comments posted on this site, or the content and/or accuracy of such exchanges. MedHelp International does not endorse the views of any user.
Genetics (Expert Forum)
20 y/o otherwise healthy male
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
This forum is for questions and support regarding Genetics.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
20 y/o otherwise healthy male
by SteveUF, Sep 28, 2007 03:41PM
I'm a 20 y/o active male. I've recently (within the last 4 years) developed somewhat odd symptoms. Randomly, when doing any kind of exercise after just a few seconds I lose my vision and hearing, then faint soon after with chest pain and breathing difficulty. When I regain consciousness I vomit for upto 20 minutes after. Usually, after 30-60 minutes of rest, I feel fine again and everything is back to normal.
However, 2 weeks ago, I had another "attack" but ever since I've had chest pains, and trouble breathing. My legs and arms are also partially numb and tingly and trembling for the last 2 weeks also. Additionally I've been having a low grade fever of 99.6~100.8 from then up to today (temp taken by my family doctor). I was sent to get blood work too and the results came back with elevated liver enzymes. I also came back negative for mono, anemia, and hepatitis.
I was referred to a cardiologist to get tested for marfan syndrome since I have all the characteristics of it except for extreme height (I'm 5'11), or any other possible heart problems. The results from the echocardiogram came back fine, so my doctor said even if I do have marfan I don't need to worry since it hasn't affected my heart; but doesn't marfan also affect the lungs and spine? I'm still having consistent dull [left side]chest pains though, that sometimes flare up to be very painful.
The next step my Dr. said, was that I might have a siezure disorder, and has referred me to a neurologist to get tests done. I do not believe this is a correct diagnosis, since whenever I pass out (as several witnesses say) I've never siezed; I just faint. What really upset me is that he put a restriction on my driver's license so now it's a felony for me to drive until a neurologist clears me. I've NEVER passed out while sitting, driving, or doing non-strenuous activity. Even when I do activity, it's not often that I do pass out. I feel this may have been a bit of an extreme misdiagnosis.
However, 2 weeks ago, I had another "attack" but ever since I've had chest pains, and trouble breathing. My legs and arms are also partially numb and tingly and trembling for the last 2 weeks also. Additionally I've been having a low grade fever of 99.6~100.8 from then up to today (temp taken by my family doctor). I was sent to get blood work too and the results came back with elevated liver enzymes. I also came back negative for mono, anemia, and hepatitis.
I was referred to a cardiologist to get tested for marfan syndrome since I have all the characteristics of it except for extreme height (I'm 5'11), or any other possible heart problems. The results from the echocardiogram came back fine, so my doctor said even if I do have marfan I don't need to worry since it hasn't affected my heart; but doesn't marfan also affect the lungs and spine? I'm still having consistent dull [left side]chest pains though, that sometimes flare up to be very painful.
The next step my Dr. said, was that I might have a siezure disorder, and has referred me to a neurologist to get tests done. I do not believe this is a correct diagnosis, since whenever I pass out (as several witnesses say) I've never siezed; I just faint. What really upset me is that he put a restriction on my driver's license so now it's a felony for me to drive until a neurologist clears me. I've NEVER passed out while sitting, driving, or doing non-strenuous activity. Even when I do activity, it's not often that I do pass out. I feel this may have been a bit of an extreme misdiagnosis.
Doctor's Answer
by Lisa Kessler, MS, CGC, Oct 01, 2007 06:58PM
, Oct 01, 2007 06:58PM
It sounds like it has been very difficult finding a cause for the symptoms that you are describing. I encourage you to continue to work with your doctor or seek second and/or third opinions to help determine what is going on.
Regarding the evaluation for Marfan syndrome, a medical geneticist would be the appropriate type of physician to perform a complete exam. 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.
You are correct - Marfan syndrome can also affect the spine and the lungs, too. Marfan syndrome can cause pneumothorax (collapsed lung without trauma). And it can cause scoliosis (curving of the spine) which can cause restrictive lung disease. It is important to have a complete exam specific for Marfan syndrome to completely rule out or diagnose the condition. You can find a medical geneticist through the American College of Medical Genetics (ACMG).
Regarding the evaluation for Marfan syndrome, a medical geneticist would be the appropriate type of physician to perform a complete exam. 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.
You are correct - Marfan syndrome can also affect the spine and the lungs, too. Marfan syndrome can cause pneumothorax (collapsed lung without trauma). And it can cause scoliosis (curving of the spine) which can cause restrictive lung disease. It is important to have a complete exam specific for Marfan syndrome to completely rule out or diagnose the condition. You can find a medical geneticist through the American College of Medical Genetics (ACMG).
