I hope someone can help me.
Dr. Murphy has just posted Factor V Leiden testing not useful?
I have left this comment:
Dear Dr. Murphy, I remember I have studied on lecture notes some conditions in which to ask for a screening on trombophilia, such as first episode of DVT (age < 45), recurrent DVT without risk factors, DVT during pregnancy and many other. Do you know which is the major ebm reference on this topic? The review on FVL that you have linked is huge and too specialistic for a student I think. I just read on the abstract that there is some week clinical utility. I was thinking that in the list of situations in which ask for screening, I have "asymptomatic people with parents with known thrombophilia condition". I would like to know what you think about this and if you could give me some tips to study this issue better. Knowing the carrier state of a mutation could bring for example a woman in avoiding contraceptive pills / smoking / any other risk factor, and doing so prevent a first DVT event. Thanks for letting me look more deeply on this topic.
In conclusion what I am wondering is:
- The EBM reference for the conditions in which it is appropriate to ask for thrombophilia screening test. This is because I can't argument a decision saying "it says so in my lecture notes".
- What clinical changes occur when you know a patient has a factor V Leiden mutation, prothrombin G20210-A, hiperhomocisteinemia or maybe other more rare conditions?
- Prevention strategies through genetic testing on possibly "at risk" people?
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