I’m new here... diagnosed with APS in 2011, alongside UCTD. Fast forward to 2018 and I was tested at the recurrent miscarriage clinic but the APS blood tests came back negative (twice). I wasn’t told that this could happen and it doesn’t affect your diagnosis but my gynaecologist was basically questioning whether I’d ever had it and I had to show him the letters with my original diagnosis. To complicate matters I tested positive for prothrombin thrombophilia and was led to believe this is what I had, not APS. Nobody suggested referring me to a specialist at this point!
A couple of weeks ago I developed a DVT after knee surgery. I’m now in warfarin for 3 months. I’ve been seen at 2 different hospitals (long story). The first has asked my GP to refer me to a haematologist but he’s saying there is no need as there’s nothing they can do!!
My question is do I need to be under the care of a haematologist? I am tempted to get a private referral so I can get the advice of a haematologist and then they can tell the GP!
Also, does anyone else have 2 kinds of thrombophilia? This is the first clot I’ve had but I have had 3 miscarriages.
Thanks everyone x
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MrDarcydog
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Hi MrDarcy! You’ve been through quite the ordeal. So sorry all this has happened to you. You have quite a complex case. I am going to try and answer some of your questions. First thing....yes, you should 100% see a hematologist.
Once you test positive for APS on 2 different occasions 3 mos apart via anti-cardiolipin, Beta2GP or lupus anticoagulant panel, you gain the diagnosis regardless if your panel is negative in the future. These labs fluctuate. With miscarriages, especially early ones, would make suspicion of APS even higher. A hematologist may recommend heparin during pregnancy to prevent future miscarriages.
In regard to prothrombin mutation, do you know if one or both of your alleles are mutated? If both are mutated, this does confer an increased risk of DVT by about 6-10 times. If only one is mutated, most docs don’t treat for that because it really doesn’t increased risk for clot anymore than maybe 2 times.
Your GP is presuming your DVT was caused by surgery especially knee surgery. This is called a “provoked” DVT in medical terms. Cancer, immobility and surgery esp knee are biggest risk factors for provoked DVT. A DVT that just comes out of nowhere would be regarded as “unprovoked” and this would require lifelong anticoagulation especially with a history of APS.
With that being said, APS is usually more problematic with arteries so it is possible that the prothrombin mutation increased your risk for DVT after surgery.
The appropriate course of action would be to anticoagulate for 3 months and monitor thereafter. Not sure if you’d be a candidate for newer DOACs with APS history but this would be where a hematologist would be of great help.
I’d definitely ask your GP for referral to hematology. I wouldn’t hesitate for one second. You certainly have a lot of risk factors for clots and prophylactic anticoagulation therapy should be at least discussed with a professional in the field.
Hope this helps and you find the answers you are looking for! Keep us up to date.
Thanks so much for your reply, that’s really helpful!
I was told I’d need heparin in pregnancy (I’ve had it before but had to stop when identified as ectopic/miscarriage). The didn’t tell me if one or both of my alleles are mutated!
They have said 3 months of warfarin but I would be happier speaking to a haematologist, as like you say my case is complicated and other Drs always ask if I am under a haematologist when I tell them about the thrombophilia.
I think I will push for a referral.
That’s interesting about APS being more problematic with arteries.
Do you know if it’s common to have more than one kind of thrombophilia?
Inherited thrombophilias are actually quite rare. There are 2 major but rare ones - prothrombin gene mutation (which you have) and factor V Leiden caused by another mutation. Factor V Leiden is more common and found in Mediterranean and European descent. Prothrombin gene mutation is actually quite rare with most prevalence in European Caucasian populations. I was taught that it is highest in those with Irish heritage. My grandmother, aunt and cousin have the mutation (one copy) and my grandmother was on lifelong warfarin - she had lupus on top of the mutation.
It’s very uncommon to have more than one thrombophilia but it doesn’t mean it can’t happen. It’s also rare for both copies to be mutated. About 5% of those with the prothrombin gene mutation have both copies mutated so that’s <1% of the population.
I don’t know if a hematologist would change your current plan but it might be nice to discuss the idea of prophylactic anticoagulation regimen like a low dose DOAC, lovenox or even aspirin once the 3 months of warfarin are up.
I have UCTD, which my rheumatologist describes as mild lupus, I just didn’t meet enough of the criteria for a full diagnosis back in 2011 and since then it’s been kind of left/stable.
I definitely want to find out if both copies are mutated.
It was a haematologist at the first hospital (where I’d been to A&E) that prescribed heparin (now stopped) and warfarin for 3 months. They said DOACs weren’t licensed where someone has thrombophilia (I guess where a clot has developed) but if I do need to be on anti coagulants longer term I would rather it wasn’t warfarin as we would like to try and conceive again soon.
I’m going to push for more answers. I wish I had done when I found out about the prothrombin gene.
I thought this was an interesting tid bit published by hematology. They used D-dimer to assess anticoagulation response and if still positive in APS patients after appropriate anticoagulation time, they’d recommend indefinite anticoagulation. 😳
Hi there, it is advisable that you are referred to a specialist who fully understands this condition, we have a list on here over on the right hand side of the forum, under 'pinned posts' many of us on here have a mixture of diseases. I include this useful paper for you to read: the-rheumatologist.org/arti...
I also have APS and UCTD and a few other immune problems. I actually had 2 blood clots within 11 years, then about 10 years later I had a rash that lasted 2 years. Went to 6 different dermatologist and finally I did some research and talked with the last dermatologist that I thought this might be the Hughes syndrome. She referred me to a Hemotologist. The Hemotologist listened to me about my back history, what’s going on now. They ran the blood work and it. Some back negative for the Hughes/APS syndrome. So I showed her where it states that 2% of patients can have negative lab work but still be positive for APS. So with this rash and referral from the dermatologist, and my history of clots she put me on warfarin. Within 2 weeks my rash that was there for 2 years disappeared completely. So she kept me on warfarin. Within a year from this, I developed 3 blood clots in my pelvis that affected my legs. So I had to do heprin shots, then once dissolved I went back on warfarin. I just had my last blood clots in December 2018 which was in my traverse sinus vein (back of my brain) so more heprin shots and back to warfarin. So the moral to all this is even if you test negative, you can still be positive. So if you feel you should see a specialist, go see one. Doctors aren’t always right. Good luck to you and I’m wishing you the best. Take care!
Wow, you’ve been through a lot! Thank you for sharing your story. I am definitely going to push for a referral so that I get the right tests and treatment.
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