How does the prothrombin gene mutation affect pregnancy?

Question

Hello doctor,

I am 29 years old, female. I was recently diagnosed with prothrombin gene mutation (also known as Factor II) and would like to know if I should also be tested for Factor V Leiden, protein C deficiency, protein S deficiency, and antithrombin deficiency. I am on baby Aspirin daily due to a PFO in the heart.

I am also wondering whether I should consult a hematologist during pregnancy, as my husband and I are planning to conceive. Does this prothrombin gene mutation affect the ability to conceive or maintain pregnancy? Some forums mention difficulty in getting pregnant and an increased risk of miscarriage.

My gynecologist advised that during pregnancy, I may need to take Lovenox and switch to heparin closer to delivery. My sister has the same mutation and followed this plan during her first pregnancy with minimal complications, and she is doing the same in her second pregnancy.

Kindly advise.

Answer 1

Hello,

Welcome to icliniq.com.

I have read your query and understand your concern.

You have undergone a routine evaluation for thrombosis, as your sister had one. However, 2 to 6 % of the population will have the same mutation, and most of them do not develop any sort of thrombosis in their lifetime.

There are numerous mutations in which you may be positive or negative if tested. Whether these mutations are affecting you or are going to affect you is difficult to predict. If you had a deep vein thrombosis by now, we could have thought of prothrombin, factor IV, or protein C and protein S mutation.

Until now, there has never been a problem. If there is an associated mutation of prothrombin along with protein C and S, and if they are affected, then the treatment plan will vary before, during, and after pregnancy.

To avoid complications during pregnancy, you will be started on anti-coagulants like your sister, and you can do the same. Getting further tests for mutations will not solve the problem, as prothrombin mutations or other mutations need not always complicate pregnancy and are dependent on various environmental factors (toxins damaging endothelium), hormonal factors (estrogen, oral contraceptive pills), and personal lifestyle (smoking, reduced activity).

I hope you are satisfied with my answer. For further queries, you can consult me at iCliniq.

Thank you.