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Bleeding and Clotting Disorders

Genetic mutations of PAI-1 and MTFGR

11/12/2008

Question:

The genetic mutation factors I have are PAI-1 and MTFGR. Would it be prudent for my brothers to be tested? I found out about mine during my 2nd pregnancy and I now have been on Coumadin for 4 years.

Answer:

In general, testing for genetic thrombophilias is not performed in patients who have not had a venous thrombosis of other clotting event. There are special circumstances such as pregnancy or other rare time when they might be checked, but in general, without a documented clot, this information will not change the management.

In your case in particular, the MTHFR mutation itself does not increase the risk for venous thrombosis, but rather the mutation can result in elevated homocysteine levels that have been associated with an increased risk for VTE and heart disease. If your homosycteine levels are not increased above normal, there may be no additional risk for you.

I am a little confused with the PAI-1 question because typically if there is a decreased amount of this protein, there is a bleeding tendency rather than a clotting tendency unless the mutation caused an increase in the activity of the protein.

I hope this helps out somewhat. If you still have questions, I would encourage you to speak with a physician who deals with issues related to venous thrombosis to better answer your questions.

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Response by:

Spero R Cataland, MD Spero R Cataland, MD
Associate Professor of Clinical Internal Medicine
College of Medicine
The Ohio State University