Factor V Leiden & Stillbirth, Future Treatment

[Mscookie]

Dear Doctor,

I was diagnosed as being hetergenous for Factor V Leiden and homogenous MTHFR C677T (with normal Homomcystein levels at 7) after the recent stillbirth of my son at 38wks.  He was rather small only weighing 1.930kg and was growth restricted at 35wks, the pathologist who examined the placenta diagnosed it as a Placental Infarction.

I have never had any blood clotting problems or family histroy of clotting.  We are still waiting to see which parent has the varient gene/genes.  I have read that many women have healthy children with this Thrombophilia even without treatment.  The Obstertician after consulting with a haemotologist has decided that next pregnancy I will be on low dose Aspirin and be monitored closely in a high risk clinic.  

1.  I have read many sites where women have been given LMW Heparins injections with this gene, do you think Aspirin is suffice?

2.  I did during pregnancy have a BMI of 36 and didn't exercise much at all.  My Mother in Law also is a heavy smoker so I think that along with her I inhaled ALOT of second hand smoke (I live in her house).  I feel these additional risk factors caused the placental clotting and not the Factor V Leiden on its own would you agree?

3.  I'm currently in the process of losing weight to get into a healthy BMI before we try to conceive again and have moved out of my Mother in Laws house.  I still take my prenatal vitamins and have started walking for exercise.  Is there anything else you can suggest?

Just an additional note, I have not had a miscarriage and became pregnant fairly easily on our second month of actively of trying.

[Mscookie]

Thank you, you have in no way confused me, the studies do though, you have been very helpful : )  I in fact had my Homocystein levels checked during pregnancy and they were 7, I think my FVL did most of the damage unfortunately.  

I myself am more inclined to request LMW heparin, as I would like to use the maximum approach, I do not want to risk the lives of any future babies or myself for that matter (just thinking outloudly with that statement)

You have been very informative and I thank you greatly for that.  I'm only trying to arm myself with as much knowledge before my next pregnancy, I would like all my decisions to be well informed.

[John Kim, M.D.]

You raise a controversial topic in thrombophilia and pregnancy. Although you may have normal homocysteine levels when you are not pregnant, there is a theoretical problem when you become pregnant because you may develp a theoretical functional hyperhomocysteinemia due to increased metabolic needs of pregnancy. However, the studies are not clear about the association between homozygous C677T MTHFR mutation and pregnancy loss. Certainly, you must decide on the benefits/risks of taking LMW heparin with your physician.  If you keep taking enough Calcium and Vit D, then the bone loss risk should be minimal.

You may take the extra folic acid and B vitamins at the level of Metanx--one tablet/day. Folic acid can be supplemented 4-5mg/day, B6 25-50mg/day, B12 500-1000mcg/day. But please check with your physician before taking any medications.

In light of the unclear evidence, you may choose a minimal approach to treating the "thrombophilias" ie low dose aspirin or you may choose a maximum approach ie aspirin and LMW heparin, after discussing everything with your obstetrician or perinatologist. I am only providing some information, I cannot make a medical recommendation.  I am sorry if I have contributed to your confusion. I wish you the best.

[Mscookie]

Thank you for answering my questions.

I'm just a little confused with the conflicting studies that I have read.  Although I am Homozygous for MTHFR C677T there is no solid proof that it causes clotting on its own as it is not a Thrombophilia unless you have raised homocystein levels, mine are normal, in fact lower end of normal .  I also had a Nuchal Translucency test at 12 weeks and came back with 1:36 000 risk for neural tube defects and Down Syndrome.

I understand your advice on taking extra precautions such as what you have suggested with extra B vitamins and Folic Acid, but would that still be safe considering I have normal levels and my homocystein level is low?

Clexane (Brand name for LMWH in Australia) also carries risks of haemorrhage as well as placental abruption and loss of bone mass.  What is the general risk of the latter whilst on Clexane?

[John Kim, M.D.]

It must have been very difficult for you. My sympathies to you for the loss of your son.

I believe you meant homozygous for MTHFR mutation C677T  and heterozygous for Factor V Leiden.

Question 1: I think it is reasonalbe to take baby ASA 81mg per day. You may also decide with your physician's advice or with a specialist's advice to take LMW heparin. If you choose to take it, you should be monitored with a PTT and take Calcium carbonate 1500mg/day with Vitamin D. You can also take a bioavailable form of folic acid, B12 and B6 called Metanx. Because of your mutations, you should take extra folic acid, B6, and B12, and I feel Metanx is the best way to get it. I agree with the high risk monitoring and testing for neural tube defects risk. I think it is reasonalbe for you to have a consultation with a high risk doctor called a perinatologist or Maternal-Fetal Medicine specialist who specializes in high risk pregnancies such as yours.

Question 2: I do agree with keeping your BMI lower than 36 and staying away from second hand smoke but it would be difficult to say that was the cause of placental clotting for sure although smoking exposure has been linked to bad perinatal outcomes.

Question 3: I suggest taking extra folic acid, B12 and B6 in the form of Metanx. Eat healthy, avoiding high fat, high carboydrate food. Avoid pesticides and mercury by not eating fresh water fish, tuna, tile fish, shark or mackeral. Wild salmon in moderation is ok. Walking is a great form of exercise. You may also do some form of stress reduction like a mind/body progam like prenatal yoga classes, prayer or meditation.

I certainly wish you the best.