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  • Why am I not diagnosed?

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    Old 08-05-2016, 06:08 PM   #1
    MaddyGL
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    Unhappy Why am I not diagnosed?

    So I've been pretty sick for a while now. My mom has lupus, but it's very under control, so she knows what she's talking about when we go into appointments. I also do a ton of research, out of paranoia.

    My symptoms are extreme fatigue, joint pain (redness, swelling, hot to touch), hair loss (without scarring), mouth sores, and neuropathy like symptoms. So far, I have been diagnosed with fibromyalgia (secondary to an autoimmune disease that they can't diagnose yet), hypermobility syndrome, and Erythromelelgia, which is opposite of raynauds phenomenon. The Erythromelelgia is also secondary to an autoimmune disease.

    I've had a ton of blood work done, and found that my CH50 is high, as well as my ANA. All of my rheumatologists are telling me that my ANA could be elevated because of my mother having lupus. I believe this is the reason they're not diagnosing me yet, although I feel that I have enough symptoms to prove my case.

    Am I the only one that thinks that it's a little strange that no one is diagnosing me yet? I clearly have systemic inflammation, and all of my symptoms are lupus symptoms. Am I missing something here? Is there something else they could be looking for?

    I was tested for Lyme, and only one of my panels came back positive (there needs to be 4 to confirm the diagnosis), Vasculitis, my Rheumatoid factor was normal- in case it was RA, and all of the other related diseases/syndromes don't seem to really relate to the majority of my symptoms.

    Anyone have some input, information, or stories about long diagnosises to share? I could really use some advice.

    Thank you!!

     
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    Old 08-12-2016, 04:28 AM   #2
    VeeJ
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    Re: Why am I not diagnosed?

    Maddy, hi and welcome. I'm sorry for your issues and for your not having answers. A lot of us---maybe most---spent time in limbo. Have you read the "sticky posts" (permanent info posts) above the user threads? The core of a lupus dx is explained in the "sticky" about criteria. Generally (but not always), you must meet 4 or more of the 11 to sustain a dx of SLE.

    Re ANA. I think it counts toward meeting one criterion only when deemed high enough. Why: because ANA can elevate due to passing bacterial or viral infections---also, as you wrote about, due to a family tendency. Also, even when really high (say 1:640, 1:1280, or higher), because ANA isn't specific to any single condition, it alone can't ever diagnose anything. But all that said, do you know how high yours is?

    ANA subtypes. These more specialized blood tests can be more useful than ANA because some (not all) are more specific to certain conditions, or at least "point" to one or more as candidates. Has your rheumatologist run those subtype tests? e.g., anti-ds-DNA, anti-Sm, anti-RNP, anti-Ro, anti-La, anticardiolipin, antiphospholipid, etc. But even when those are elevated, the next questions is always "By how much?" (They can be elevated but be considered "ambiguous" or "weakly positive" and thus not counted... as opposed to "positive" or "strongly positive".)

    Re other symptoms. Diffuse hair loss is common in lupus. Arthralgia is a criterion. Oral ulceration is a criterion, too. CH50, C3, and C4 tend to depress in lupus, not elevate. (I don't know what elevated CH50 might point to, sorry. Think it can fluctuate somewhat, though, in the course of normal events, meaning how our immune systems ramp up then go quieter.)

    Have your thyroid values been checked? Hypothyroidism can cause many of the same symptoms as milder lupus, including fatigue, diffuse hair loss, and joint pain.

    re RA. This has its own set of diagnostic criteria. RF is not diagnostic, and in fact, some people remain permanently seronegative. The best test is actually anti-CCP: it's considered an excellent predictor for developing RA.

    I haven't heard of Erythromelelgia. (I shall look up.)

    Do you have copies of basic labs, meaning CBC and metabolic panel? Sometimes there are clues (but not proof) there. And is urinalysis run regularly to check kidney filtering?

    The "sticky posts" also contain excellent reading resources available in most libraries. I found one hardcover extremely helpful. (Didn't read the whole book, only pertinent parts). The most useful chapter, for me, was one discussing how lupus is distinguished from "close cousins". Also the skin chapter (but I had photosensitive rashes for years.) Hope you post more soon. Meanwhile, sending best wishes!

     
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    Old 08-12-2016, 07:28 AM   #3
    VeeJ
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    Re: Why am I not diagnosed?

    Hi again. With what I just saw about Erythromelelgia, it's apparently much frequently "primary"; and although it's sometimes secondary, lupus is just one of the conditions it can accompany. For example, bone marrow disorders are high on the list, falling even before lupus. So in your shoes, I'd probably widen, not narrow, my focus---at least for the time being. And since Erythromelelgia is considered a rare disease, I'd contact one of the national foundations for rare diseases, to see what it has to offer---like doctors who know the most about the condition, etc.

    Just this year, two people close to me got dx'es of rare AI conditions, after months (the man) and years (the woman) seeking answers. In both cases, their rheumatologists kept waiting for lupus to become diagnosable. (I presume this was because lupus is relatively common, and because it can affect lungs, where both were having huge problems.) But as it turned out, it wasn't lupus for either: he has Anti-synthetase Syndrome, and she has Microscopic Polyangiitis. Both are rare and I'd never heard of either... It was a huge shock to all of us, and a big lesson on how many AI's there are, and how the really rare ones can require super-specialists.

    Please keep us posted. I hope things start making more sense soon. Forgot to ask: is your Erythromelelgia being treated? Thinking of you, Vee

     
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    Old 08-16-2016, 01:04 PM   #4
    MaddyGL
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    Re: Why am I not diagnosed?

    Thank you for your response and input!

    To answer your question, my ANA has changed a few times. It currently 1 to 150, but at one point was 1 to 1220. So of course, it could be due to past viruses or my mother having lupus. Also, I was checked for hypo and hyperthyroidism. It appears that I don't have either

    Coincidentally, I had a doctors appointment today with a new rheumatologist who was very knowledgeable and helpful to my situation. She said that she believes that I do have lupus, but it isn't active. She can't make an official diagnosis, of course, because the ANA isn't a solid factor.

    I wish that she'd put me on a trial of hydroxycholoroquine, but at the same time, I'd rather not be over-medicated. Instead she is sending to me to a pain rehabilitation center where I will receive aerobic therapy, and other variations of physical therapy for my hypermobility syndrome and fibromyalgia. I will also be receiving aid from a psychologist who will help me develop coping skills for my pain and stress. I love the fact that she is trying to help me with my pain- even though there isn't a label for it yet! I'm only a junior in high school, so I'm hoping that I'll be able to get caught up once all of this is over with!!

    Also, I do keep a copy of all of my bloodwork, and my mother and I go over all of the tests thoroughly to see if there is anything unusual that was unseen. My CBC is actually a little high- which seems a little common. I also did get my urine checked and it was completely normal!

    As for the erythromelelgia, I was at one point taking 500mg of naproxen which helped a little bit, but not completely. I don't really get it that much anymore, and I think it is from the meloxicam I'm on. However when I do experience the erythromelelgia phenomenon, I try my best to elevate the area that is effected above my heart (raising my hands, putting pillows underneath my feet as I lay down). If I get it in my ears or nose, I'm out of luck though! Thank you for looking into it- I actually really appreciate it!

    Thank you so much for your help!

     
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    Old 08-16-2016, 03:08 PM   #5
    VeeJ
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    Re: Why am I not diagnosed?

    Glad to see your update and that your new rheum is very interested in getting to the bottom of this. I had symptoms from my early teen years but was hard to diagnose, too. Speaking of which... have you heard of the Lupus Band Test (LBT)? It's needed only very rarely because most people with lupus eventually have something meaningful turn up in blood labs. Anyway, the LBT is a skin test, a deep-punch biopsy that has two stages. In the first, the punch is examined under the microscope for tell-tale cellular changes. In the second step, 5 different immunofluorescent stains are applied, to look for linear bands to appear. If you're positive (bands appear) with all 5 stains, it's systemic lupus---to a greater than 99% certainty.

    That sounds weird, I admit, but there's a good reason! Lupus is the only condition known that deposits random circulating "immune junk" between the dermal & epidermal layers of skin, that will fluoresce in distinctive linear "bands" with those stains. Thus the name of the test...

    The specialist who did my LBT is a dermatopathologist (double specialty, in both pathology and dermatology) at one of the big teaching hospitals. You need someone very good to perform this specialty test, I think.

    Another pitfall I had: I'm in a pretty small subset of anti-Ro-only patients. Worse yet, I stayed ANA-negative, which happens in only about 1/3 of the anti-Ro-only people, which put me in a very tiny "subset of a subset" (That's the phrase my dermatopathologist used to explain it.) I think in all of lupus, my findings happen in only 1-2%, at the most. And that's why my rheum, once he found anti-Ro with a negative ANA, wanted that LBT done. It was the one test that finally confirmed, with certainty, that I had lupus.

    BTW, one of the popular lupus hardcovers discusses the LBT and various diagnostic difficulties (including anti-Ro-only). You could borrow it from your library & review those parts with your mom and even your rheum. (Can't hurt to ask good questions, right?) Keep us posted, OK? Sending best wishes!

    Last edited by VeeJ; 08-16-2016 at 03:10 PM. Reason: typo

     
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    autoimmune disease, diagnosing, fibromyalgia, hypermobility syndrome, lupus



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