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  • Negative ANA what next

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    Old 10-22-2015, 07:04 PM   #1
    chele67
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    Negative ANA what next

    I have spent several months trying to get answers.
    The hematologist thinks autoimmune but my ANA was negative. I am not sure where to go from here. Could it still be an Autoimmune?
    Any and all suggestions would be helpful.

    Tests
    -IgD is 298 very high
    -White Cell count has gone from 10.5 to 10.8 to 11.8 to 12.7 over the last 5 months.
    -abnormal lymphocytes
    -high absolute neutrophils
    -slightly elevated red cell count
    -Hematocrit & Hemoglobin elevated
    -HS ESR has gone down from 6 to 2
    -c-reactive protein from .5 to 3.5
    -HOMOCYSTEINE high 12.1
    -DNA (DS) negative
    -CARDIOLIPIN AB IGM negative
    -CARDIOLIPIN AB IGA CARDIOLIPIN AB IGA negative
    -CARDIOLIPIN AB IGG CARDIOLIPIN AB IGG negative
    -THYROID PEROXIDASE ABS negative
    -SSB negative
    -SSA negative
    -TSH W/REFLEX TO FT4 1.5
    -THYROGLOBULIN ANTIBODIES <1
    -negative Epstein-Barr
    -negative ANA, RA, etc. (twice since January)
    -negative for multiple myeloma
    -negative JAK 2 gene
    -ct scan of abdomen except for slight cirrhosis of liver but normal liver counts
    - MRI of brain showed no abnormalities

    Symptoms
    -extreme fatigue
    -headaches
    -ruddy skin especially face
    -muscle weakness/spasms in hands
    -heart palpations
    -abdominal pain
    -rashes which last a few hours to a few days
    - vitamin D deficient

    Anyone with an idea what might be going on would be appreciated. My doctors have basically given up! I feel like I need to start bringing in suggestions or ideas for them. I am so fed up with being sick!

     
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    Old 10-24-2015, 08:45 AM   #2
    VeeJ
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    Re: Negative ANA what next

    Hi & welcome. I'd probably ask about conditions that cause elevation in IgD. One I just saw: Hyper Immunoglobulin D Syndrome, abbreviated HIDS, which I'd never heard of until today. (But it shows up very young, which you didn't state.) It stems from genetic causes, btw, putting it into a different category than the autoimmunes we usually kick around.

    There are other so-called "periodic fever syndromes", too, that aren't from infectious causes or autoimmune, either. Although you didn't mention fever per se, I read that these things can cause rashes, weakness, pain, etc.

    Boy, you must be puzzled & disgusted. I think you're right in trying to spur broader thinking, rather than just in the AI arena. Have you tried a teaching hospital? (Those encounter pretty much everything.) Or maybe an immunologist?

    I hope others chip too. Looking forward to hearing more. Sending my best wishes, Vee

    Last edited by VeeJ; 10-24-2015 at 09:18 AM. Reason: rewote, was a total mess; also deleted redundancy

     
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    Old 10-25-2015, 10:38 PM   #3
    chele67
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    Re: Negative ANA what next

    Thank you for your reply.
    Sorry I didn't state originally but they have ruled out any of the so-called fever syndromes.
    Its hard to just get the shoulder shrugs and the repeated "I don't know" answer. I just want an answer so I can start correctly treating whatever is going on. The continued rise in my blood counts each month is frightening! That just can't be happening for no reason.

     
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    Old 10-26-2015, 03:35 AM   #4
    VeeJ
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    Re: Negative ANA what next

    OK. Well, gee, dunno. I see why you're having a hard time getting a toehold on this! Maybe ask more about your CT findings of liver cirrhosis? E.g., were tests done for the all forms of hepatitis? Of the other common causes of cirrhosis (meds & supplements, fatty liver, alcohol, etc.), do any apply? FYI, others here have discussed the challenges in getting autoimmune hepatitis (AIH) diagnosed. HOWEVER, I think they all had some elevated liver values, which you don't... Meaning liver may not even belong on the radar since your values are in-range---but you could ask, just to be sure.

    Since homocysteine can elevate when B6, B12, and Folate go low, you could make sure those levels were tested and ask about other causes for elevation.

    Did your doctors rule out the various tick (etc.) borne illnesses, Lyme and the others?

    Any unexplained weight gain or loss? GI issues? Just curious.

    Your ruddy face & hand spasms surely mean something to some doctor out there! Have any commented? I'm trying to remember something I read decades ago about someone famous who turned out to have Addison's (adrenal). If I can remember & it feels even remotely relevant, I'll add a P.S. But in the meantime, do you see Cortisol and ACTH on your lab results? Both are specialty add-on tests, I think.

     
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    Old 10-27-2015, 09:41 PM   #5
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    Re: Negative ANA what next

    Liver counts were in high 200's a year ago, then 100's in April, and normal in September. I was tested for all the forms of hepatitis, with negative results

    B12 was actually high in March and normal in July. My Folate and B6 are normal. Doctor was a bit stumped by that one too. I also am positive for the MTHFR gene mutation.

    I had a tick bite, actually embedded in the back side of my underarm in 2008. I was tested for Lyme's about a week after the bite and it was negative.

    I have lost about 15 lbs. in the last 2 months without trying. I am unable to eat as much because I start getting nauseous. I often have acid reflux.

    The doctors keep saying the muscle spasms have to be related to disc issues I have in the cervical area. The hematologist thought the ruddy face was a symptom of an autoimmune but then he was like well maybe not.

    Cortisol was 7.8 mcg/dL, I really don't know what this means. Lab report doesn't give me a normal range.
    ACTH was 21. My lab report says that it is normal range.

    Thanks for all your help!

     
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    Old 10-28-2015, 12:34 AM   #6
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    Re: Negative ANA what next

    Hi. There is another form of hepatitis, the autoimmune kind, abbreviated AIH. Unlike for the viral forms, it has no definitive tests (it's a dx of exclusion). There's at least one recent thread here. To locate it, you could use the advanced search feature or just browse thread titles. Looking forward to hearing if it rings any bells with you. Bye for now.

     
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    Old 10-28-2015, 08:25 AM   #7
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    Re: Negative ANA what next

    I would like to suggest you get checked for hemochromatosis. It is a genetic disease that causes excess iron storage, primarily in the liver, and can cause cirrhosis, elevated liver enzymes. It can also cause iron deposits in the endocrine glands, like pancreas, thyroid, ovaries, causing diabetes, low thyroid, and premature menopause. It diagnosed by blood tests (serum ferritin (stored iron), transferrin saturation (excess iron absorption) and other iron studies. The ruddy face and headaches are caused by the high red cell counts. Genetic studies can also be done. Treatment is essential and is simple: periodic blood donations to keep ferritin in normal range and avoidance of iron supplements.

     
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    Old 10-29-2015, 10:27 PM   #8
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    Re: Negative ANA what next

    Hi ladybud,
    My ferritin is only 28. I also only have one mutation of the HFE C282Y gene and no abnormality in the H63D gene. The doctors do not believe this is a possibility.

    What do you know about the secondary form?

     
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    Old 10-30-2015, 07:23 AM   #9
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    Re: Negative ANA what next

    Hi. I forgot to ask, per your first post, what's abnormal about your lymphocytes (too many, too few, too large, or what)? That would catch a hematologist's attention, I'd think.

    Also, what kind of doctor did the MTHFR test? (It looks controversial.)

    Is this your first set of doctors? At some point, if symptoms persist, do you have a Plan #2 that you could invoke? When my local doctors came up with nothing, I took myself to a teaching hospital in a large city, which worked out. Also, the fact that it's your IgD that's elevated---it's apparently a poorly understood immunoglobulin---would be yet another reason to try a large teaching hospital. Why? because with many more patients, they see more variety, is my theory, including low-odds conditions.

     
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    Old 11-02-2015, 07:33 AM   #10
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    Re: Negative ANA what next

    You are apparently a carrier of one gene mutation, since you only have one mutation, not two. You may never develop any problem from this. Secondary hemochromatosis results from other medical issues, and with a ferritin of 28, you needn't worry. That level is perfectly normal. You might see if anti-mitochondrial antibodies have been done to check for autoimmune hepatitis or primary biliary cirrhosis. I think a hepatologist (liver specialist) would be a good idea for you to see.

     
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    Old 11-11-2015, 03:02 PM   #11
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    Re: Negative ANA what next

    I just returned from seeing my primary doctor.
    She is doing some final tests and then will be giving me a referral to Standford.

    She is running some additional autoimmune panels to see if anything comes up. Basically, a shot in the dark to see if anything shows up. Not sure all the ones but it was several.
    She is also running a serum tryptase and 24 hr urine histamine along with 24 hour urine collection to measure prostaglandin D2. I have the gene for Mast Cell Activation Disorder. I also meet all 8 symptomatic criteria.
    They are also redoing my lyme's testing. I had a tick bite in 2008. The tests then were negative.
    Additionally, she is running all the tests that have been elevated to look for changes.
    I also went and had a chest xray done. Lymph nodes by my clavical are swollen.

    I see her again on December 14th.

    Vee- I have a large number of lymphocytes.

    Thanks for everyone's help!

     
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    Old 11-12-2015, 07:17 AM   #12
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    Re: Negative ANA what next

    I do hope something shows up to guide your diagnostic path. Going to Stanford also sounds good. It is so frustrating to have all these things happening without an explanation (thus far). It will be trying, but worth it, when you finally get some answers. Good luck and please keep us posted!

     
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    Old 12-19-2015, 01:02 PM   #13
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    Re: Negative ANA what next

    I finally have a diagnosis! I have Mast Cell Activation Disorder. I am scheduled to have a bone and skin biopsy to check for and hopefully rule out mastocytosis. I will be going to Standford in January.

     
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