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APS is actually a syndrome: antiphospholipid syndrome and is due to autoantibodies directed primarily against cell membranes (the cell membrane is the "skin" of our cells). These autoantibodies preferentially attack a certain protein in the cell membranes of platelets (platelets are involved in the clotting mechanism) . . . and as a consequence . . . the most prevalent symptom of APS is blood clots. It would be rare for you to be diagnosed with APS and not have blood clots.
APS is obviously an autoimmune disorder and many times people with APS have some other type of autoimmune disorder as well. I have read a few of your posts and see that you have had symptoms for over 25 years . . . and symptoms that wax and wane. That simply isn't how ALS typically presents. It is certainly how many autoimmune disorders present, however.
You ask if APS can develop into ALS: given the etiology of APS, I would have to say no . . . but then again . . . no one knows how and why ALS develops (except for the familial form of the disease). Your physician was correct in that this disorder can affect skeletal muscle as well but the signs and symptoms would resemble something more on the lines of a myopathy. The autoantibodies of APS can also be directed against mitochondria and so signs and symptoms could resemble mitochondrial disease.
If your present symptoms are related to your past symptoms, then I would not suspect ALS, given how ALS is a progressive disease and you simply have not been progressing. My money would be on something autoimmune.
If your present symptoms are not related to your past symptoms, then anything is possible. What I would suggest is go to a neuro and get a full evaluation (including an EMG) so they can determine if you have any type of neurological problem. Until you do that, you and I and everyone else would be able to do nothing but speculate.
Wright,
Thanks for your thoughts. I will be going back to the main neuro who has been following me lately, and since about 96, on Nov 20. I also asked and got a referral to a speech therapist/pathologist for evaluation of speech, tongue, etc. (as have found these are more thorough than those by neurologists).
By asking on APS forums, I've discovered maybe 4 or 5 others with APS with undiagnosed, illusive, fluctuating muscle problems. It is that sort of observation which, of course, should be pursued by researchers. Since some autoimmune disorders can mimic ALS (according to experts like Appel and Patten (who I believe once worked together at Baylor) I would think and hope that those being worked up for ALS are screened carefully for any autoimmune disorders for which there is any hint, as Patten describes in the article I cited on the syndrome of ALS.
In my case, I had no clotting symptoms and it was only a fluke and my questioning and persistence (after being written off by 3 doctors, including 2 neurologists) that the blood tests were done which revealed the high (and increasing) titers of these APS antibodies. Odd, because the first sign of these elevated antibodies was in blood work at NIH for a neuromuscular evaluation (16 vials of blood). I noticed this one slightly abnormal result for something called anticardiolipin antibody; something I never heard of. When I asked the neuro who ordered all this bloodwork what its significance was, he said nothing; which raised the question as to why he ordered this test in the first place. It was only while searching for some answers to these problems that I discovered APS and the connection with these elevated antibodies, leading me to ask my doctor about testing for it. Internist and Neuro at the time were skeptical that the earlier reading was valid, but agreed to repeat the test, and sure enough, came back very elevated. Elevated antibodies have since been confirmed on repeat testing. Internist speculated that I didn't yet have clots because of all the supplements I take which have anti-clotting properties, like statin, fish oil, Vitamin E and more.
The APS specialist I saw a week ago said that if people randomly off the street were tested for the APS antibodies, something like as high as 5% would have them (a higher figure than I recall reading before). Presumably, most of these will not go on to develop clotting. But this does raise the possibility that, say, someone with an ALS diagnosed could have undiagnosed APS antibodies - undiagnosed because the person was asymptomatic and there was no reason to test for these. In fact, for women, often the first sign of APS is a miscarriage or repeated miscarriages. Since more men than women get ALS this would obviously not be a path to diagnosis.
Finally, re. your comment that ALS is progressive, and since my clinical history and picture does not fit with this, I don't have ALS, is the standard line of neurologists, and one I've heard several times over the years. However, as in so many things in medicine, there are general rules, but seldom iron-clad ones. I have spoken to and read about more than a few who had ALS who did not have a typical, steadily progressive pattern of symptoms. I could probably cite 10 such cases. Bulbar symptoms especially seem to often have some fluctuating course. So while I agree that ALS with a history like mine would be quite unusual, it apparently does happen.
In fact, I've read that Multifocal Motor Neuropathy (MMN) should be suspected when the course is slow and there is little disability after 5 years. I have hints of MMN (also related to an autoimmune disorder) on a couple of EMGs and have raised this question. The neuros did not take this seriously when I did, however if I continue to progress, I imagine that they will be more likely to rigorously consider this possibility. Indeed, it is one reason that I will ask the neuro to repeat the EMG and look specifically for signs of MMN, even though some things don't quite fit MMN, like cranial involvement, which is supposed to be unusual in MMN.
BTW, my current Neuro thought I had mitochondrial myopathy back in 96, but at last vist said he doubts this now, as there hasn't been the expected progression. I suspect that what has progression - albeit perhaps quite slowly - is the tongue atrophy and maybe some related muscles related to swallowing.
Anyway, thanks for your thoughts and I'll keep folks posted on what happens. Hopefully, the Plaquenil will make some difference.
Searcher
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