Could I have Hughes Syndrome?

[AnnNY]

I was wondering if I could ask for your thoughts. I had an illness about a year ago where it felt as if my whole body went berserk, and I still don’t understand what happened to me. I had a history of a lupus like illness--photosensitivity, arthralgias, low grade fever, weight loss. After a few years of flares of this sort, I started to get MS like symptoms. I had some foot drop and some strange episodes in the heat. Once I woke up on a hot day and was blind until I cooled off. Another time my entire leg went numb in a sauna. My leg would often feel heavy. My blood tests were mostly negative for lupus, but I had a positive skin biopsy. I had low titers of ANAs occasionally, and once was told I had an antibody to RNA. I was fortunate enough to find a rheumatologist who tried me on plaquenil, and it just did wonders for me. Most everything went away. I still had muscle pain and problems sleeping, so my rheumatologist thought I also had fibromyalgia. I also started getting severe migraines. I did a trial of discontinuing the plaquenil and they migraines got worse, so I went back on the plaquenil. After about 7 years I quit plaquenil and seemed about the same, but I was still having bad migraines. Years went by in which I did relatively well except for migraines, frequent colds and viruses, and fibro like pain.

I moved and stopped seeing a rheumatologist, but my PCP where I live wanted me to see a rheumatologist. She tried prednisone just to see if the fibro-like pain would respond to it and it helped very much. I started having some chest pain, which she thought might be pericarditis and told me to go back on prednisone. When I stopped the prednisone, I had an episode of severe chest pain. The cardiologist didn’t see obvious pericarditis, but said that it sounded symptomatically like pericarditis, and sometimes it happened that nothing much would be seen. (There were some EKG changes and mild insufficiency). I went on methotrexate, which helped a great deal with pain, but had side effects, so I quit. Afterwards I had a wonderful remission, especially from pain, but I still had some exhaustion. I also had chronic sinusitis that I was attempting to treat without antibiotics.

I hadn’t had much problem in the sun in the last, so I was not very vigilant about sun exposure. At the end of summer, I spent two days in the sun and was suddenly struck with the most profound exhaustion I ever experienced. My temp went up. Pain started up in my hips and back. I also got very severe abdominal pain. Then I started getting neuro symptoms--tingling in my legs, and very bad brain fog. I was having trouble speaking. I couldn’t remember how to use my computer, when I am usually everyone’s tech support. I couldn’t read, do simple math, and I couldn’t remember anything from one moment to the other. My left leg went wonky. (Ataxia?) My limbs started visibly twitching. And I was having trouble speaking at times—word finding. And I couldn’t find any medical help. Apparently the doctors near me thought I was just having some kind of anxiety attack. Finally, I went to an ER in the city and had a seizure. I went in the neuro-ward, where they saw the seizure on the EEG. They also gave me heparin just as a preventative since I had my head hooked up to the wall. Apparently, I perplexed everyone because my seizures disappeared too quickly—and they treated me as if I faked the seizure, even though they had seen the seizure on the EEG and visually. My blood tests showed an elevated ESR, CRP and very high lactic acid, but the ANA and anti-DNA was negative. They only did the VDRL for APS and that was negative—like it has always been. My spinal fluid was negative. The MRI was normal except for some “shrinkage.” The doctors behaved as if I had faked the seizure, and gave me the bum’s rush. Besides just getting over a really bad encounter with the medical system, over the past year I kind of kept wondering why I was better in the hospital than I had been the weeks before I entered the hospital. I was talking normally, and remembering things. After awhile they told me I could quit taking the heparin and I did, and my abdominal pain came back.

In the summer though, I started to get pain in the nerves of my legs and arms that seemed to get worse after sun exposure. Finally, I just went back to my old PCP who has known me for 30 years. He drained me of blood. Again ANA, & anti-DNA--negative. A whole lot of neurological antibodies were negative. But I had a positive anti-myelin igg antibody. I started trying to figure out what the anti-myelin antibody meant and I came across Hughes Syndrome. I felt like Dr. House—well this just explains everything! Since my old PCP was a prodigious test taker, I wonder if he had tested me before for the test mentioned on the Hughes website. I found that in 2000 my cardiolipin igg was 8 which was considered negative by the lab. I told my neurologist about the heparin and the anti-myelin antibody. I think he thought I was totally mad, but said well, take aspirin. So I did take one 325 aspirin a day. Much to my surprise the pain down my arms became significantly better. Another really unexpected thing was that I had been having abdominal pains that I thought was really bad gas, but that also went away with aspirin. And I’ve been mentally clearer.

But the thing is I haven’t had blood clots, although sometimes I had wondered if I had a blood clot because of localized pain in my calf. But it was never bad enough to go to a doctor, and the pains went away on their own pretty quickly. So I did finally get to a new rheumatologist and she is a specialist in APS. She told me that my cardiolipin wasn’t high enough, and the heparin doesn’t work like that. Also, she said I had inflammation and APS doesn’t cause inflammation. She didn't exactly diagnose me, but did put me back on plaquenil. Although I haven’t been on it long, it seems to be helping the sciatica in my legs. I keep taking the aspirin, since it seems to be helping (I’ve been self-treating myself for pain with Advil for many years.) I do consider myself lucky, since if I do have lupus, it is relatively mild. And if I have APS it must also be relatively mild. But whatever I had a year ago was just scary. And I have spent so many years of one doctor saying one thing and another saying something else, I’d really like to know what he heck is going on.

I asked my PCP to take the tests that are listed on the Hughes site, and the results were cardiolipin IGG-8, cardiolipin IgM-2, cardiolipin IgA-7. The lab says this is normal. For the dRVVT TEST 31.4, dRVVT CONFIRM 29.1 (which is labeled low by the lab), and the dRVVT RATIO 1.08 (normal again). My INR was 1.0.

In my mind it seemed as if the sinus infection somehow triggered photosensitivity and a lupus flare and at the same time APS? I have never been pregnant, and I haven’t had a blood clot that I know of. Maybe I should just believe the doc, but my reaction to aspirin and heparin, really have me wondering.

Sorry for the length of this, and if you have read it many thanks.

[Manofmendip]

Hi Ann

Thank you for posting and welcome.

I would like to read your post fully and try to understand what is happening to you but I cannot read it now, as I have to go out.

I am sure that others on here will reply, possibly before I have time to.

Where are you from?

Best wishes.

Dave x

[AnnNY]

Thank you. I can understand why you have not time--too long. I live in upstate NY, but my new rheumatologist is in NYC. I was also in the hospital a year ago in NYC.

[Manofmendip in reply to AnnNY]

As my colleagues have already said we are not doctors and cannot tell you whether you have APS or not. Mary has sent you a link to an organisation in the USA so I hope you will be able to locate a Dr through them who can provide you with a diagnosis.

Dave

[MaryF Administrator]

Hi, I can't tell you whether you have Hughes Syndrome or not, as we are not medically trained and of course rather like with RA and with Lupus it is possible to be Seronegative for Hughes Syndrome/APS and this can at times delay diagnosis. I do suggest though that you look at some of the names on this list in the USA who have knowledge of the condition, other members on here also will have more localized knowledge as it is crucial that you see somebody medically trained with working knowledge of the condition.

apsaction.org/

I will also tell you that people with APS often have Sjogrens and also Thyroid issues, which at times get wrongly diagnosed as 'Fibro' and of course many have Lupus alongside this. You are on the right track and need a more medical detail. Also try if you are planning to see somebody with APS knowledge to shorten your history into bullet points of events and also the symptoms to make for easy reminders for yourself and to be easily read by those you choose to see. MaryF

[Lure2]

Hi there,

I have read it quickly and I am from Sweden so it may be an adventure........ Anyway when you write " you started to have neurosymptoms" - it sounds to me like APS symptoms. That is all I can say. The rest I cannot comment

I am sure you will get answers from others. and also thank you for your post. We learn so much from your story.

Take care from Kerstin in Stockholm

[GinaD]

I'm afraid I have little to add except it sure sounds autoimmuny to me. Know that seronegative Hughes is not as accepted a diagnosis here in the States as in the UK. Recently in this forum I read the posts of one fellow Yank who went to London to consult with a collegue of Dr Hughes himself. Expensive? Yes. But possibly an option for us Yanks sometimes.

Good luck! And let us know how things go!

Gina In West Virginia

[AnnNY]

So one of my cognitive problems has been with writing. I thought I was doing well by writing my question above. Either something was wrong with the way I wrote my question, or there is a British-American English translation problem. I sort of poured out my heart to people across the pond in way I don’t do with either my family or friends. Having my memory and skills impaired has been really difficult for me. That and being treated like dirt from the doctors that I have been seeking help from. By no means was I asking for a diagnosis. I was asking for any information I could get from knowledgeable people who suffered from APS. (I won’t go into details, but he reason I had to see so many doctors wasn’t my choice.)

Perhaps I should mention that I worked in hospitals as a young person while contemplated being a doctor. Instead I ended up writing about health subjects in magazines and also being a researcher for a magazine.

While researching this anti-myelin antibody, I found it was associated with APS. (It seems that it is actually a sort of antiphospholipid antibody.) I read an article by Dr. Hughes called “Migraine, memory loss, and “multiple sclerosis ”. Neurological features of the antiphospholipid (Hughes’) syndrome.” Since I have had migraines, memory loss, and I keep being tested for MS, even though I don’t have MS, this was of great interest to me. Other things mentioned in the article that I have or have had in the past are peripheral neuropathy, seizure, some kind of movement disorder, weakness in my legs, and a history of lupus or a lupus-like autoimmune disorder. My most thorough testing was done in the ‘80s, but I don’t seem to have thyroid antibodies or sjogrens antibodies (or not enough to be positive). Most of the testing I had for APS has been the passé VDRL.

The doctor I sought out in the states is a colleague of one of the doctors in your list. But the thing that has had me perplexed is she was telling me something different that what I had read on your website and in the writings of Dr. Hughes. According to your website, my cardiolipin IgG is a low positive, but the labs in the States say it is negative. And the doctor I saw said I need really high titers for it to be APS. I had been reading about serio-negative APS here, but clearly she didn’t believe that. She also said people with APS don’t have high signs of inflammation, and I’m wondering if this is true. Dr. Hughes talks about trials with Heparin. I had an accidental trial with Heparin, which really seemed improve my condition. Now I’m consciously taking aspirin, which has helped me quite a bit. Since having continuing problems with my memory, reading, writing & speaking--and this is a particularly painful and difficult situation for a former editor and writer--I’d like to do the another heparin trial to see if my mind clears up further.

So, I guess two particular questions I have are do you have any feedback about what I have written. (I am clear you are not medical professionals.)

If I continue on just the aspirin and plaquinel and I do theoretically have APS, do you think my mind will continue to clear up, as it seems the peripheral neuropathy has?

Since coming to London doesn’t seem remotely feasible now, do you have any thoughts on how to deal with an expert who doesn’t seem to be accepting the findings of Dr. Hughes?

To your knowledge, could a lupus flare cause my APS antibodies to go higher? Is there such thing as an APS flare that is short of CAPS?

To me it seems APS would explain so much, but as I said I haven’t had a clot to my knowledge, but if there are micro-clots, that does seem a possibility.

I don’t have livedo either, although I have had petichea (during sun exposure). So perhaps I am really on the wrong track.

Sorry about my writing. Actually writing this seems like a victory, since last year I had trouble putting a couple of sentence together. But clearly my editing still is a problem, so please bear with me.

Thanks for your answers thus far, but if you can possibly give me some additional thoughts, I would so much appreciate it.

[Lure2]

Hi again,

I have had microclots, microembolies. Nothing on MRI. The doctors at the Stockholm-Hospital told me to try Warfarin but I hesitated as I was not sure I had APS. The first TIA in 2002. Nine years later I started warfarin. Before that i could not read (I had to stop my painting, selling my car and stop singing in the Churchchoir).

Then I found the Hughes Syndrome Foundation. Possibly in 2009 and became a member and got a book written by Kay Thackray namned "Sticky Blood Explained" On side 55 I understood that I had APS. I started warfarin and then most of my neurological symtoms disappeared. It was a miracle. I could read again and my memory and head cleared up.

We have all had to meet doctors that are non-professional and felt like hypochondriacs in front of them.

If I had not read English in school I would never had been able to meet all this wonderful people on this site and learnt so much because in Sweden we do not have knowledge of this new and rare illness.

That was what I wanted to tell you. Read that book also. It is very good..

Best wishes from Kerstin in Stockholm

[AnnNY]

I guess this is an unusual presentation. It sounds like most of you have clots & TIAs, and not the lupus like illness and something that looks like MS that isn't MS. Sometimes I get the best information comes from informed laymen. Doctors don't often have much time to answer questions, especially from their particularly curious patients. The idea of taking blood thinners is scary, but if it would jump start my brain, and even help with my other symptoms, I think it might be worth it. I just don't know what to do if the experts disagree, and I'm in the place where they may be not as forward-thinking. Thanks for what you have been able to tell me.

[MSer]

I'm curious about the "shrinkage" the neurologist noticed on your MRI. I have read of cases of MS where there are no visible lesions, only shrinkage of the brain. Have you had more recent MRIs and if so, did they show further shrinkage?

[AnnNY]

MSer-- "Shrinkage" was my word. The rheumatologist I saw said "mild volume loss." Although I have been told I had MS once, and tested thoroughly twice, including spinal taps, I'm pretty sure the docs are right when they say I don't have MS.

[Lhrlovesmar]

AnnNY, APS really does mimic MS. Since you seem concerned (and rightly so) you need to go to an auto-immune Dr. Someone who is trained in auto-immune disorders. Ann, you'll realize that alot of the doctors have no idea what APS is. Stop fooling around with this Dr.

[MSer]

Im just not sure that Hughes causes symptoms like blindness and neurological symptoms when hot. Has anyone heard of this?

[Lure2 in reply to MSer]

Hi there,

I Think you should test for APS. At first the neurologist thought I had MS and they tested for APS and I had all the antibodies. Yes. Hughes (APS) means a lot of different neurological symtoms. I had doublevision Vertigo and could not see at my right eye for a couple of minutes many times. After warfarin these symtoms have disappeared. They were TIAs and microclots.

Take care wish you well from Kerstin in Stockholm

[AnnNY]

Lhiovesmar--I did go to a specialist in APS in the US (a colleague of someone on the list), but they don't seem to believe in serio-negative (or semi-positive) APS. Since I haven't had livedo or blot clots, maybe I don't have APS. But aspirin definitely helps me in ways I wouldn't have expected (aspirin helps abdominal pain???) and heperin seemed to have helped me in the hospital. My impression is that this doctor was a good doctor, but they consider a lot of what Dr. Hughes says as controversial, and apparently they are on the other side of the controversy.

MSer--That's an interesting question. My understanding is the heat problem happens in MS, but does it also happen with APS? Also, can a lupus flare cause an APS "flare?" When I was really sick before my seizure, I would be better in the morning, both pain-wise and congnitively. I read something here about livedo disappearing in the morning, and I'm wondering is this something you know about?

I have an appointment later this month. I'll bring in a couple of articles by Dr. Hughes. I'm sure they must know about his thinking. I'd like to try the heparin trial again to see if it would help again. If my finances were not so bad after being incapacitated for more than a year, the idea of just going to London would be very tempting. However, if another doctor treated me as if I was raving mad, I might end up in the Thames. (That's a joke, but I'd be really unhappy.)

Thanks everyone for your input. If you have more words of wisdom before my next appointment, I'll be grateful to hear them.

[Lure2]

Hi again,

I wish you luck at your next appointment wherever it is. This illness is a trial and error.

Find yourself an APS-doctor and tell him your symtoms. A lot of people have negative antibodies but the symptoms are the most important to the diagnose. It is a difficult illness affecting sometimes all parts of the body. Lupus and APS are very close and also thyroidea and Sjögrens.

A heparin-trial again would perhaps give you an answer. You mention you have tried it earlier with good result.

Kerstin in Stockholm

[AnnNY]

Thanks, Kersten, for your responses. So many questions, so difficult to get answers!