Discussions By Condition: Rare Disases

Marfan: Symptoms of Pneumothorax?

Posted In: Rare Disases 0 Replies
  • Posted By: leeirons
  • November 30, 2006
  • 06:58 PM

First the question, and then some background. Is it possible to be walking around with an intermittent, non-tension pneumothorax (for a year-and-a-half), without it showing up on an x-ray?

I am in the process of being diagnosed with Marfan syndrome. My geneticist is pretty sure that I have it (we've already found the dilated aortic root and I have some of the Marfan phenotype signs), but we are still working on testing me to see if all of my symptoms are being caused by connective tissue conditions related to Marfan syndrome.

For the last year-and-a-half, I have been having this tightening/shifting sensation in my throat. Looking at myself in the mirror, I can on occasion see that my "Adam's apple" has shifted slightly to the left of the centerline of my neck, and I can feel the "pulling" sensation (a tracheal shift?). Along with this, I have left chest pain, left shoulder pain, and left back pain that comes and goes. I have occasionally felt as if I was having a difficult time breathing, though I felt I was getting enough oxygen. I also occasionlly get a rasping sensation in my left chest when breathing while lying down. I also frequently get a dry cough.

My throat has been scoped by an ENT and my neck has been CT-scanned, with no signs of what is causing this. I have not had an angiogram, but I have had an echocardiogram and a thoracic MRI. My cardiologist is pretty sure it is not angina. My shoulder, C-spine, and chest have been x-rayed with no signs of arthritis. An MRI of my neck shows no nerve problems. Doing some research today, I found that these could be indications of a pneumothorax.

I know that pneumothorax can occur in people with Marfan syndrome. However, I have had chest x-rays with apparently no signs of pneumothorax. The only thing notable was very slight localized fibrosis scarring in my lower right lung that the doctors say probably occured during some illness when I was young.

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