Seronegative APS?

[tathougies]

Hello,

My wife has had 7 miscarriages at this point, and we're looking for answers. Part of the complication is that she has a paracentric inversion on one of her chromosomes that is supposed to raise her miscarriage risk. However, something like 20%-40% of our pregnancies are supposed to be okay, and we're simply not seeing that at all. Our last pregnancy ended at 16 weeks, and there was a perfectly formed fetus on the ultrasound. From what we understand, this shouldn't happen in a pregnancy affected by her inversion. We're still awaiting genetic testing, but if the baby comes back normal we'll be back at square one to figure out why she keeps miscarrying.

A possible APS diagnosis has crossed our mind several times. My wife has many clinical signs of the disease, but her anti-cardiolipin antibodies, LA testing, anti-beta-2-glycoprotein-1 antibodies (as well as a few other 'experimental' antibody tests) have come back completely negative. She's been tested twice now... same results.

She does have some clinical manifestations of the disease. Firstly, her skin turns blue and net-like when it's cold. Is this how livedo works, or is it supposed to be there all the time? Secondly, she suffered migraines as a teenager. Thirdly, she briefly took a combined oral contraceptive (estrogen + progesterone) before we married for two weeks. The first day she took it, she immediately started experiencing dizziness, headaches, lethargy, nausea, and migraines. The symptoms were so severe, she quit.

I'm not sure how to pursue a real diagnosis. Our doctor has offered lovenox (low molecular weight heparin) in the next pregnancy, but I feel we'd like some more reassurance as to what's going on. We live in San Francisco, CA. Does anyone know of any doctors who are knowledgeable about APS in the Bay Area or in California more generally?

[Wittycjt]

You may want to post a separate post: looking for APS physician in Bay Area of California, experienced with pregnancy. Just a suggestion, Cindy

[tathougies]

Thanks for all the information! We live in America, so everything here is 'private'. Our doctor has been meticulous about the thyroid testing. My wife is being treated for subclinical hypothyroidism. Her anti-TPO and anti-TG antibodies are both negative (in fact, every auto-immune test so far has been negative... and not just negative, but undetectable). Still, miscarriages...

Her T4 and T3 are now both in range, after treatment.

Interesting about the birth control. I don't think she was symptom spotting. This was before we were married, and she noticed such an immediate response that she had to call in sick from work and interrupted my business trip. The doctor didn't give any explanation, she just went off the pill.

[tathougies]

Oh one more thing... All her tests come back normal (endocrine, auto-immune, clotting), except for anti-thrombin iii antigen and activity, which is above the range. Our doctor said there's no associations with high anti-thrombin iii, but it seems weird. I've never heard of it before.

[penelopeduck]

So sorry for your losses. It must be incredibly difficult for you both. I think regardless of official diagnosis it’s great that your wife will be offered treatment such a lovenox. This sometimes happens in the uk too if they are unsure as to a cause. Low dose aspirin is usually prescribed too.

On another note and separate from aps have you looked into ivf with preimplantation genetic diagnosis?

[tathougies in reply to penelopeduck]

We're not particularly interested in IVF right now (perhaps in the future, I don't know). From what we understand of others with inversions and translocations, it usually takes just as many cycles of IVF as natural conception to get a healthy embryo. Indeed, if this baby comes back as chromosomally normal, then we're happy waiting a few months for the next normal embryo, and use this time to prepare. Thanks for the advice though

[GinaD]

Ihave no idea if my post is relavant to you. But the reference to birth control prodded me. See, given my family history and my past symptomology and blood work, I strongly suspect that excess estrogen tips the body’s metabolic balance into inflammation. I was perscribed birth control pills back in my tweens as a possible remedy to the awful, AWFUL,periods I had been having. They did not help and I began to have pains in the calf which I now realize were probable mini DVTs.

II was expecting troubles with pregnancy, but excepting a late onset blood pressure issues in pregnancy 2, I had no issues and in fact felt better while pregnant. Both girls born healthy and full term.

In my 40s I briefly consulted with a doctor who put me on locally compounded progesterone cream, which he suspected would be useful as my estrogen hormones were high and out of balance. And that cream was wonderful! but the doctor did not like resulting blood tests as I inched toward menopause and took me off the cream.

Quite by accident I found I had a gluten sensitivity. Going gluten free improved my health, proved both objectively by blood work, and subjectively with a lot more energy and sharpness. Turns out, in many people gluten is an inflammatory.

Anxious to NOT get the dementia which runs in my family, and anxious to avoid another autoimmune disease, I took myself to Cleveland Clinic last year and started on their high veggie and protein, low starch and sugar diet as well as a gut healing protocol. And man! It just keeps getting better! APLS diagnosis and warfarin, gluten free diet, CC gut and diet protocol and ( I am not kidding!) I feel better at age 62 then I i did at age 22.

And at age 62 I have turned down many doctor’ suggestions that I take hormones since I am in menopause. My reaction , as I mentally back up and raise my hands protectively is “No. Nnnnnnoooo! No. No.”

I have no idea if my experiences shine a light on your issues but I am beginning to suspect diet induced metabolic imbalances are the hidden villains of chronic disease.

[tathougies in reply to GinaD]

Interesting. We've tried dietary changes, but it hasn't seemed to do much. I have hashimoto's, so we went for 6 - 7 months completely gluten free and paleo. She didn't see any change, and miscarried a few times on that.

*All* her antibody titres are basically zero. Not even low levels of antibodies -- the labs say 'undetectable'.

[MaryF Administrator]

Firstly great, that you have a sensible doctor advising anticoagulants for next pregnancy, please get them to also test her D, B12 Iron an Thryroid so that nothing is ruled out. It is not unusual to have Livedo Reticularis and some also end up with Raynards. It is possible to be sero negative, I was for years, you do sound as if you need to keep an eye on it all, we do have a list of specialists in the UK, over on the right hand side under pinned posts. But I am guessing you may be in the USA> MaryF

[tathougies in reply to MaryF]

Mary,

Her doctor has tested b12, d, iron, and thyroid. Vitamin D was low at the beginning but she supplements now and it’s alright. B12 was high, probably due to supplementation. Iron was normal. Thyroid was a bit low, so that’s been addressed.

Her mom has severe Reynauds (she has to wear special warning gloves for it). My wife has a lesser version I think (definitely not something she complains about too often).

[lupus-support1 Administrator]

Dr Daniel Wallace at Cedars Sinai is an expert in SLE (systemic lupus erythematosus) and is familiar with APS since many lupus patients also have APS.

You might also contact the local chapter of the Lupus Foundation of America (lupus.org) who may know about doctors.

This must be very, very distressing for your wife and yourself. Livedo reticularis will be more prominent at times, but if your wife has this lace-like pattern, it is worth while photographing the rash because it is a strange thing that these rashes vanish when seeing a doctor!

Migraines, multiple miscarriages and many other symptoms are included.

I wish you and your wife well. If you need to talk about this, please return because this will affect you both.

With good wishes,

Ros

[tathougies in reply to lupus-support1]

That's a great idea about photographing the rash. It becomes very prominent under the right conditions (mainly on the top of her feet and hands), but otherwise, her skin is quite clear.

[tathougies]

Yes, I know it's the complete opposite, which is why we're all very confused. It's the only test that has been consistently out of normal.

[tathougies]

Been repeated twice now :/ We're going to see a hematologist to try to understand this