T Nation

Q for Medical Types


#1

A little history:
My dad had a very aggressive form of pancreatic cancer about 5 years ago but managed to beat it. Consequently, he's been monitored very closely all this time.

About 6 months ago he started getting blood clots and went from aspirin to coumadin therapy. The coumadin wasn't being effective enough (not exactly sure how they figured this) so he's now on daily shots of fragmin. The docs decided to do a DNA test and it came back with him having a genetic mutation called Prothrombin/Factor II G20210A. From what I gather it's about the opposite of hemophilia. Since it's a hereditary thing, I was tested too and yes, I have it also.

I've been trying to learn about this and what it means to me (and potentially my son as well) but for all the crap that Google brings up, I'm at a loss. My PCP is of no help whatsoever. Took me a half hour to convince him to even look in his big ol' book of tests to see if there was one for this and when I got the results he was rather flippant with a "Heck, let's get you on coumadin right now!"

Uh.....no. Not until I know what the heck all this means am I going to start popping pills.

Now, I know it works in my favor that I don't smoke, am not on birth control pills, am not obese and other than a high BUN/Creatinine level, have a very "normal" CBC/ChemScreen/HDL profile.

My question is this: Where the heck can I go for info on this written in relative lay terms? Is anyone familiar with this?


#2

Karma,
Ive worked in the cardiovascular arena for a few years, however, I am not familiar with what you are describing; at least not in the terminolgy you described it. I will see what I can find out however.

Don


#3

Sorry about the new Karma, I went through all my military medical books that i have been able to acquire over the years and all i could kind was that the disesease has alot to do with the bodies ability to use vitamin K and other substances to help blood clot forming agents. This can be caused by a lack of bile of liver damage which is most likely due to the nature of his illness. Sorry that is all that i could find but i am sure you already knew all of that from your previous research. Good luck and sorry for the news of your family.
Dastang


#4

You might want to try Medline Plus if you haven't already. Good info on a lot of diseases and medications.


#5

Do you know if this condition has a name? The only thing I could find that even remotely resembles it is Thrombotic Thrombocytopenic Purpura, but the text doesn't mention that it's genetic, only that the causes of the clotting are unknown.


#6

Obitalboner: The only thing I know (and what I've been Googling) is "G20210A Prothrombin gene mutation". I've come up with lots of medical jargon stuff but like I said - it's Greek to me.

I've not had a chance to check any of the sites recommended as yet but will do so soon. Hopefully, there will something highly informative but easily understandable.

This link seems to have more detail than most - perhaps it'll prove helpful. http://arpa.allenpress.com/arpaonline/?request=get-document&doi=10.1043%2F0003-9985(2002)126%3C1319:CALMOT%3E2.0.CO%3B2

A number of the things mentioned do apply: Southern European descent (French, briefly by way of Canada), preeclamptic pregnancy (advanced to toxemia), father is homozygous (don't know if I am homo or hetero [teasing may now commence]) though as the test didn't differentiate and that carries a different risk factor.