QuestionQUESTION: Hi. I recently had testing for ANAs, and the results were 1:320, which I understand is relatively low, but the pattern was nucleolar. I had further testing for scleroderma, lupus, and many other autoimmune disorders but all tests were negative for specific antibodies. I have depression (which I take medication for), and nearly every common, generalized physical symptoms unrelated to the disorder. Because of these symptoms, I have undergone countless tests, all of which have resulted in normal-range results. I have a history of approximately 4 seizures of unknown origin and no known pattern of triggers. I am scheduled for a repeat ANA test later this summer. Is the pattern anything to be concerned about? My aunt was diagnosed with RA at 21 (I am 22) and has hypothyroidism as well. No other autoimmune disorders exist in my family. I understand the ANA pattern is unusual, but is it possible that it is normal, or rather, insignificant?
ANSWER: At 1:320, your ANA is positive, but without signs and symptoms that point to scleroderma it's pretty insignificant for now. As I understand it, a higher titer doesn't really mean anything. It's positive at 1:320 and over and negative otherwise. False positives are possible. That may be why your doctor wants to take another later.
ANAs are generally taken to support a diagnosis from reported symptoms and observation. The most common symptom in scleroderma is Raynaud's Phenomenon, where fingers and toes turn white, then blue due to blood vessels spasming shut in response to cold or stress, then bright red as the spasm relaxes and oxygenated blood returns to the areas. Up to 98% of us have it, and though it's described as "painless" in a lot of places, these were apparently written by people who didn't have Raynaud's. They can be significantly painful if prolonged. It's not something you miss, especially if you live in a cold climate or reach into a freezer for things, so if you aren't having these, it's not likely you have systemic scleroderma.
The nucleolar pattern is also associated with polymyositis. I don't have any experience with it other than being promptly tested for the muscle enzyme CPK early in my disease whenever I had muscle weakness. Unlike the ANAs, this test seems to be pretty significant if the levels are high.
I hope you get an answer for the cause and treatment soon for the seizures and other symptoms.
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QUESTION: Well my neurologist now believes that the unusual ANA results could be a cause of my seizures, but since I was subsequently ruled out for all relevant conditions, we have no where to go. The only hope of finding a cause for my physical complaints seems to be in waiting for any possible disease to progress so it's more obvious. The only changes that they've noticed in my MRIs was a slight change in my hippocamppus, which i've been told is merely a result of having multiple seizures. The neurologist is not interested in putting me on any medication (which I was on in the past and hated). At this point II guess I just...give up? Is it worth doing anything else besides the ANA recheck before my next rheumatologist appointment? They had said my results weren't high, but that the pattern certainly was unusual. Is it possible to have additional antibodies specific to certain Autoimmune disorders show up over time? I just dread having more and more invasive tests at this point, if nothing is wrong. and I hate to keep paying to see doctor after doctor if nothing new can be told at this time. I'm so sorry for rambling on but I can't get answers from anyone else. Please respond when you've available. I greatly appreciate your response in advance. Thank you sooo much.
AnswerThe only thing I can suggest is taking your file to another neurologist to see what s/he thinks. There's no problem in a second opinion, other than your time and money, of course. I do know that scleroderma does NOT affect the brain, but there's no guarantee that you don't have more than one condition arising at the same time.
From my own experience, I'd say keep trying to find the doctor who doesn't make up her/his mind in one visit what's wrong but instead is eager to look at many possibilities carefully.