PAI-1 Homozygous mutated 4G4G genotype

[glowingtwig]

Hello,

Does anyone have any info on the links to this and recurrent early mc? I have one DD of 19 months but have had 3 mc in a row this year.

I've had all the other blood tests through prof Regan's clinic- all fine and no clotting issues. She did find a septate uterus which I had resected a month ago.

Now this result has come back and I googled and feel devastated - I really thought the issue was the septum.

The results just landed in my inbox with no explanation and I'm not seeing Prof Regan again until 7th June... I can't stand to wait nearly a week and a half feeling like I'll never have another baby because of this result 😔

Hi, PAI-1 is involved in clotting, and there are a number of different genotypes - some are more helpful than others in different clotting processes in the body. While there is some indication that the 4G/4G genotype can be associated with clotting problems in the placenta, there have also been papers published which indicated other factors can be at play and the relationship between the genotype and miscarriage risk may be influenced by other genes, etc. There are also a number of medications which can be used to reduce the impact from PAI-1 4G/4G on the placenta (eg. aspirin, enoxaparin), so even if this is felt to be part of the issue for you, there are management options.

I'd recommend staying away from Google and the research papers, as they'll probably cause more anxiety than they might relieve - the most useful information for you will be from your consultant, who knows your case and can put the result and the research into context for you (which no research paper or website can do).

It can feel like waiting lasts forever! But try to stay hopeful - the research suggests this might be an issue but not an insurmountable one, and you've got a great consultant looking after you.

Thinking of you 💜

Hi all, I tested myself abroad and I have PAI-1 4G/5G, MTHFR and ACE gene mutations. I wondered in which laboratory in London you tested yourself? I would like to repeat the tests here to confirm the results but can’t seem to find any laboratory information online. Thanks 😊

@K8dferXdder it was via Professor Regan's recurrent miscarriage clinic based at St Mary's in London. Bloods were processed via The Doctor's Laboratory but this needs a doctor's referral.

I've been prescribed heparin injections and aspirin and I'm now 24 weeks pregnant and all looks good so far. X

@glowingtwig thank you so much for the info and congratulations on your good news 🥳🎉 I will definitely book an appointment to see her privately as my GP will not get me a referral without a miscarriage. I had 1 failed implantation failure and really want to avoid the same with our only one day 3 frozen embryo. All my thrombophilia tests are normal but these 3 are really giving me a worry. Do you think the septum operation also helped? And last question - did you do the operation at her clinic privately and if so how much did it cost? Thanks 😊

@K8dferXdder I definitely understand your urge to make sure everything is in perfect order before you have your transfers. Prof Regan specialises in recurrent miscarriage so might not be the one, though I'm sure they would be able to recommend someone else if that were the case. You need to contact her secretary, Mary Stanton: [email protected] (via Imperial college healthcare).

A scan to check 'the uterine cavity' was one of Prof Regan's standard checks for recurrent miscarriage but you could probably have this checked via a private scan- her people work from UDS (ultrasound diagnostics London- they are on Harley street) email [email protected]

I will never know for sure what made the difference this pregnancy, but the septate resection does appear to have made a difference- I was pregnant the second month of trying after the coils were removed. My GP had exactly the same thing and was also pregnant two months later.

Do let me know how you get on.

Sorry- missed a bit. Yes, she did the op. It was a day case at King Edward's hospital in London and was £4000 - worth every single penny xx

Thank you so much for the info @glowingtwig. I realised I had HSG done through my NHS IVF clinic and all was good. However I wanted to get someone to prescribe me the aspirin + heparin for my FET to increase chances of implantation. My clinic will not do it as the tests were done abroad. I wanted to repeat them here but I need a referral from a doctor and my clinic did’t give me one. I was hoping dr. Regan will be able to do this for me on the basis that I have MTHFR, PAI-1 and ACE mutations. You are right she might not be the best person for me as I haven’t had a miscarriage but I will contact the secretary to see what they say. Thanks for your info 😇🙏

@K8dferXdder I'm sure she will have a consultation with you and repeat the bloods if needed. She's an amazing (if slightly formidable) woman. Wishing you all the luck in the world with it.