Diagnosis APS (IVF)

I wonder if any one can give any advice/ information on the following.

Sorry if it is a bit long

My daughter age 32 has had various symptoms, over the years a tremor, leg jerks, pins and needles in arm, joint and muscle pain, cold feet and fingers, strange rashes, trigger finger, she has seen a Neuro consultant in 2014 who took bloods ( IgG igM lupus etc ) and MRI brain scan, bloods scan results were Ok, IgG 9.3. ( range 0-20) , he Just sees her yearly. However she has since been going through IVF and due to this not being successful she wanted immune bloods taken. Over this year the results of her IgG were June - 29.1, September - 58.9 (12 weeks apart), November - 9.01. She has now seen a haematologist who took further bloods tests with the November IgG, which included Compliment C 3 & 4, Monoclonal reporting IgG/igA/igM/. Imm ANCA 11F screen, Cytoplasmic ANCA, Pennuclear ANCA, ANA-hep 2, centromere antibody, dsDNA IgG, ESR, CRP, (not sure what they all mean ) all negative or within range, she has had a previous TSH which was in normal range (however not had T3/4 or antibodies) all general bloods in September were negative or within normal range including Vit D. However Protein S was low at 0.59 ( range 0.67-1.25) Folate was high at 20 (range 4.6 - 18.7 ) Haemogloblin 148 (110-147) Haematocrit 0.436 (0.32-0.43). She has been taking prenatal supplements which may be reason for high folate however she was concerned she may have MTHFR and not be processing the folate. Haematologist has given her another appointment in January she phoned him as she wanted to know if she needed any treatment and he said no, so she asked if she should see him January and he said "well you can come if you want". She feels a bit let down by all this . The question I want to ask is does she have APS with the 2 positive high readings ? What significance is the low Protein S ? Does she need any treatment at present or only if having IVF transfer or pregnant ? When the bloods were taken in November She was taking 75mg aspirin on fertility consultants advice as she had a IVF transfer which did not work, she has since stopped this. Hope this makes sense, Thank you.

7 Replies

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  • Thank you for your post and welcome to our forum.

    We are not medical professionals here and therefore cannot analyse and interpret your daughter's test results. However, the normal diagnosis of APS/Hughes Syndrome is two positive tests, of the same type, in a twelve week period. So, really, she should be seeing an APS knowledgeable consultant; see the list of these in the 'pinned posts' on the right of this page.

    Please let us know how she gets on.

    Dave

  • Thank you for your reply, yes I agree with you. We will look into this.

  • Hi

    I'm sorry your daughter is suffering many symptoms. I had similar neurological issues as well as pregnancy issues and mini-strokes. I was dismissed by 4 neurologists and saw many Drs before being diagnosed.

    It is vital that your daughter sees a dr on the list of APS experts as they are the only Drs who seem to be able to help anybody and can let you know if she has APS. Not all haematologist/ rheumatologist know of APS so getting to see a dr from the list is the best chance of getting help.

    Good luck and let us know how you get on x

  • Hi and welcome. Im sorry your daughter is having a tough time.

    First of all many neurologists don't get Hughes Syndrome and therefore they are not perhaps the best specialist to go to. As has already been suggested look for one off of our list in your area and see them for advice.

    Secondly the 3 antibody tests (aPL) your daughter needs to have done to really know if she has Hughes are these:

    aCL - Cardiolipin antibodies (IgG, IgM, and sometimes IgA) are frequently ordered as they are the most common antiphospholipids.

    LA - Lupus anticoagulant assay (e.g., RVVT, hexagonal phase lipid neutralization) if a person has a prolonged PTT test. THIS DOES NOT MEAN SHE WILL HAVE LUPUS if the test is positive!

    anti B2GP1 - Anti-beta2 glycoprotein . This is a fairly new test which is routinely now tested along with the other two.

    Personally, if she is still trying to get pregnant continuing with aspirin until she can get to see a specialist may be a good idea or if the pregnancy is on hold until her diagnosis then wait.

    There is no point in going through all the other test results as they may well have been influenced by the IVF treatment.

    It is a good idea to get her Thyroid tested for FT3 and FT4 as well as antibodies. Also B12. You say Vit D is ok, it should be 75 - 80 at least.

    Please let us know how she is getting on.

  • Thank you so much for your reply, her Vit D was 87, B12 within range, she had all the other Immunes including igM. IgA, ANA. and lupus screens, she had the anti-beta glycoprotein which was in normal range, it just seemed to be the IgG antibody that was raised twice and low protein S . Yes I agree she does need the thyroid antibodies and FT3/4. As I mentioned she has seen an haematologist who does not seem too concerned of her results. Do you have to have the other blood tests out of range you mentioned along with the IgG to decide on a diagnosis of APS or if you have had 2 positive high IgG alone is that a definite diagnosis ? Also what is the procedure to get an appintment with an APS expert, would it be easier to go to one privately ?

    Thank you

  • I agree with the advice given my both my co administrators I hope you get to see the right person MaryF

  • Thank you for all you advice, my daughter contacted Prof Hughes secretary to enquire bout a private appointment, unfortunately he is not taking any more patients. She has a further appointment in the new year with the haematologist she saw previously but this keeps being put forward. She is hoping to eventually to see one of the APS experts on the list, wether this be private or through the NHS.

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