Please help! need a diagnosis

[hma]

hello everyone, I am new to this forum but I have been looking through the posts here for the past couple months. This all started from a physical checkup I did in Aug, nurse called me the second day and told me all my blood lines were low. I was freaked out and rushed to a hematologist one week later. The doctor order whole bunch of tests, HIV, B12, Folate, CMV, EVB, ANA, PNH, Hep C, Hep B, LDH, Methylmalonic Acid, Homocystine, COMP panel and all came back normal except following:

Hep B Core Ab, Tot - Positive Abnormal
HBsAg Screen - Negative
CMV Ab, IgG - 15.1 High
Vitamin B12 - >1999 High (I have been taking 5000mg B12 since I suspected it was caused by B12)
Bilirubin, Total - 1.3 High

Doctor then ordered BMB and BMS a week later

BMB report:
Summary Interpretation
BONE MARROW, SITE NOT SPECIFIED, BIOPSY AND ASPIRATE:
1. Hypocellular (~40-50% cellularity) marrow with trilineage hematopoiesis, mild
erythroid predominance and megaloblastoid erythroid maturation. Megakaryocytes are mildly decreased in number. See comment.
2. Normal karyotypic analysis

Summary Comment
Erythroid elements exhibit megaloblastoid maturation. Overt dysplastic features are not seen in
the myeloid and the megakaryocytic cells. Provided folate level is within normal limts. Serum
vitamin B12 level is high. Potential secondary causes for the pancytopenia and macrocytic
anemia should be excluded. Immunoperoxidase studies performed on paraffin section of core
biopsy show no increase in the number of CD34(+) blasts cells. CD61 immunostain highlights the
mildly decreased numbers of megakaryocytic elements. Few small B-cells and small T-cells are
seen scattered in the interstitium; there is no evidence of involvement by lymphoma. Plasma cells
(<5%) are polytypic. Flow cytometery does not show evidence for an increased blast population,
abnormal myeloid maturation or lymphoproliferative disorder.


BMS report:

Body Site: Iliac Crest FLOW CYTOMETRY ANALYSIS 09/10/2013
Interpretation
BONE MARROW ASPIRATE: In the sample analyzed, there is no evidence for abnormal myeloid maturation or an increased blast
population. There is no evidence for a lymphoproliferative disorder.

Body Site: Bone marrow CHROMOSOME ANALYSIS 09/14/2013
Result
46,XY[20]
Interpretation
Normal male chromosome complement observed in all cells examined. There was no evidence of a chromosome abnormality within the limits
of the technology utilized.
There is a mixed population of maturing myeloid cells, B cells and T cells. No abnormal myeloid maturation is seen.

There is no increase in CD34 positive blasts, and they comprise 0.2% of the total cells. The B-cells (2% of total) are
polytypic and the T-cells (21% of total) show no pan T-cell antigen deletion. CD4:CD8 T-cell ratio is 1:1. NK-cells (2.9%
of total) and T-LGL (7.6% of total) are not increased

Here are the CBC results I have taken:

Last year (03/2012):
WBC - 6.4
RBC - 4.75
HGB - 14.6
HCT - 42.5
MCV - 90
PLT - 248

This year (08/26/2013):
WBC - 2.0
RBC - 3.66
HGB - 12.5
HCG - 37.1
MCV - 101
PLT - 71

This year (09/17/2013):
WBC - 2.2
RBC - 3.88
HGB - 13.3
HCT - 40.7
MCV - 105
PLT - 90

This year (10/15/2013) with reti cound and coombs direct:
WBC - 2.4
RBC - 3.85
HGB - 13.6
HCT - 40.2
PLT - 89

Reticulocyte Count: 1.3%
ARC: 50 ( I calculated it myself)
Coombs, Direct - Negative

This year (11/13/2013):
WBC - 2.8
RBC - 3.87
HGB - 13.5
HCT - 39.6
PLT - 82

I asked the doctor many times and he couldn't give a diagnosis. I am under huge stress now and have lost a few lbs. I am the father of two young children (1.5 and 5) and this if affecting my family deeply. I suspect that I have AA but my
BMB says 40-50% cellularity which could be normal for my age. I really appreciate if anyone can take a look my numbers and provide some inputs and suggestions.

[Hopeful]

Hi hma,

I am not a doctor, but in my view, based on the data that you provided, it doesn't look like you currently have AA or MDS. You may be fighting/recovering from a virus, which can lower all counts. You may want to look further into the Hepatitis B result. It also may also be worthwhile to run tests for arsenic or heavy metals.

Here is a website that could help with interpreting the Hep B results:
http://www.cdc.gov/hepatitis/hbv/pdf...gicchartv8.pdf

Try not to panic. It's not clear what you are fighting yet. Good luck in your search for answers!

[sbk007]

I'd just add to hopefuls post by asking what are the next steps in getting to the bottom of this? a diagnosis?

[hma]

Thank you Hopeful for the quick response. I have made an appointment with John Hopkins next week, I will definitely bring my Hep B result up to the Doctor, do you know if a virus could affect your counts for several months long? sbk007, yes, I am looking for a diagnosis then I will know what my next steps are.

[sbk007]

I think you'll feel better after you visit Hopkins, they'll know what to look for and what tests to take. That's the next step. Its crazy to speculate what it might be, you'll get lots of different answers from amateur hematologists.
Its good news that they ruled out a lot of stuff.
All the best

[evansmom]

Viruses can definitely lower all counts and CMV alone can have a negative impact for as long as the viral copies are elevated. It doesn't look like AA or MDS to me either.

Best wishes,

[Barbara K]

In late fall of 2011 my then-48 year old husband was turned away from a blood donation site due to anemia. Follow-up testing showed pancytopenia in the mild-to-moderate range (e.g., ANC around 900). BMB gave a cellularity of about 25%, which was low for his age. He had some toxic granulation, reactive lymphocytes, and giant platelets, but no significant dysplasia. To make a long story (and a huge amount of panic on my part) short, he came out with a diagnosis of suspected early/mild AA, and his counts have stayed pretty much in the same mild-to-moderate ballpark ever since. Finally they just don't know for sure what's going on. For a while he had a monoclonal gammopathy; that disappeared. Etc., etc. His hematologist told him that she has another patient with a similar profile who has been stable for a decade. What I notice is that my husband takes a regular afternoon nap, and he gets a few more respiratory infections than he used to, but otherwise life is basically back to normal.

So, as hard as it feels, try to do what others on this listserv are saying and don't assume the worst. Presumably there is something going on, but even if so, it won't necessarily be something dire!

Take care, BK

[hma]

Thank you Barbara, that made me feeling a lot better now. I am sorry your husband have to face the same situation. I couldn't stop thinking what my family was going to be if something happened to me, my daughter is only 1.5 years old and my wife is a stay-home mom.

[Barbara K]

Glad if I could be of some help, HMA. And I hear you on the reasons for the panic: our own young teen will need lifelong support for intellectual disability. Of course you would be very anxious for your family as well as yourself. While you are waiting to get more information, another way that such anxiety can be channeled is into taking very good care of yourself.

[KMac]

Dear hma,

I've had the same thoughts go through my mind about my illness and my family.

As you can see from my signature though, my counts were extremely poor at diagnosis, my AA was severe, yet I am still here, feeling much better, and back to working full time.

Even if you do have AA, judging from your counts it is a mild case. But I understand your worry.

So far as an AA diagnosis, I believe one thing to look for within the lowered WBC count is the proportion of neutrophils to lymphocytes. For example, at diagnosis, I had about 7 times more lymphoctyes than neutrophils (ANC 200). That is a very unusual proportion in healthy people (who typically have more neutrophils than lymphoctyes), but a very common finding in people with AA.

In think in that anomaly lies a huge clue to understanding AA. As grim as my counts were at diagnosis, my hematologist told me that my high lymphocyte count was a good prognostic indicator that I'd respond well to the ATG treatment. Reason being, it's believed that these lymphoctyes contain the 'rogue' blood cells which are causing the autoimmune attack on the marrow - so apparently I presented with the classic 'immune-mediated' sort of AA that often responds to immunosuppression.

Do your lab reports break out your neutrophil versus lymphocyte count within your WBC?

[hma]

Hello KMac, yes I have the values on my lab results:

08/26/13
ANC - 1.1 - 52%
ALC - 0.8 - 39%

09/18/13
ANC - 1.4 - 65%
ALC - 0.6 - 28%

10/28/13
ANC - 1.0 - 43%
ALC - 1.2 - 52%

11/13/13
ANC - 1.3 - 48%
ALC - 1.2 - 44%

looks the numbers change a lot. I hope that doesn't mean I will unlikely respond to the treatment.

[KMac]

Hi hma,

I certainly didn't mean to scare you about those numbers meaning you wouldn't respond to treatment! That prognostic indicator about the lymphocytes is just one indicator of several. Another one is reticuloctye count (baby red blood cells) - with that one, the higher the better, and mine was 0.0, so it couldn't have been any lower, yet I responded pretty well anyway.

And also, from my layperson's view I think your numbers there look OK. With me, it was more like my ANC=200, and ALC=1600, so just a huge discrepancy. But with you, both are over 1000, which is pretty good to my understanding.

I know it is hard not to worry, but I think your numbers are good enough that you are far from needing treatment, at least for AA.

I have a friend whose WBC went down for a year mysteriously, then went right back up. And I have another friend whose platelets plummeted over 20 years ago to below 50 for a year, and then they went back up and have been fine for over 20 years now. In both cases, the cause was a mystery. You might have some stubborn virus that'll work itself out, or you may run slightly low for a long time and but won't get any worse.

I think you are making the right move going to John's Hopkins for a 2nd opinion.