Blood tests questionable

[Mist33]

So, for three years I have had a long list of medical problems that were supposedly unexplainable. My Dr for the last three years told me my blood tests were normal, that there was nothing out of the ordinary. Well, when he moved and I was out of a dr, i decided to do some more detailed research myself. Found out he was lying about my blood tests. There has not been a single normal test, he even avoided to tell me about the bulging discs he found in an MRI.
Symptoms: Neverending headache, low appetite, extreme fatigure, chronic diarrhea and nausea, joint pain, chest/abdominal pain that brings me to my knees, dizzy spells after everyday tasks such as grocery shopping, cleaning, five minutes in my garden- dizzy and everything turns red (ESP in the heat) and I usually eend up falling down. I have tingling and numbness in random parts of my body. Seizures (though we haven't been able to record an on EEGs. A different infection every week- no lie.

Last blood test I got was slightly worse than the others. Went to teh ER. I was constipated but my butt was leaking blood and mucus, the abdominal pains were frequent throughout the day and leaving me in tears. They said my tests all came back normal, no signs of infection. Sent me home saying I had diarrhea. here are my results:
ABS MONO 1.1   H  (RANGE .8-1.1 OVER LAST YEAR)
ABS POLY 12.5    H
BAND 2    L
LYMPH 13    L   (RANGE FROM 13- 21 GOING DOWN SLOWLY OVER LAST YEAR)
POLY 77    H
MCH 32.8    H    (USUALLY 32.SOMETHING)
WBC    15.9    H    (WAS 9.3 when i had orbital cellulitis a month before- supposedly cured...)
BILIRUBEN   1.7   H   (TESTS RANGE 1.7-2.7 OVER LAST YEAR)

[Ken_PA]

"I have asked my dr if this was a possiblilty and he always said no"

Since abetalipoproteinemia is rare, most docs won't want to consider it. Most modern medicine is a matter of the odds and averages.

BUT!!!!! your family history should have made any doc pay attention.

[Ken_PA]

This gets more interesting. here is an *authoritative* article on the website of the National Institute of Health (NIH). Every doc knows of that.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2467409/pdf/1750-1172-3-19.pdf

I'd print and take it tomorrow. Since it is rare, I'd not expect your doc to know about it.

Notice that it comes with:
-- coagulopathy  (your intestinal bleeding) from not absorbing vitamin K
-- neuropathy (your numbness & tingling etc)

-- shows elevated bilirubin

It requires expensive genetic testing to confirm, but you might  ask for and get a "blood smear" to look for misshapen red blood cells (RBCs) called "acanthocytes". A blood smear means they smear your blood on a slide and look with a microscope.

Also, you'd have very low cholesterol levels.

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The good news is that treatment with tons of fat soluble vitamins seems to work.

[Ken_PA]

abetalipoproteinemia

Wikipedia is not *authoritative* a would be journal articles. But it usually is a good place to start. See if your symptoms match:
https://en.wikipedia.org/wiki/Abetalipoproteinemia#Symptoms

...though symptoms should supposedly show up at an early age.

Note: "many of the observed effects are due to vitamin E deficiency in particular"

Also note that eye problems result. What if your eye problem was a misdiagnosis? I'm just speculating - I'd never heard of abetalipoproteinemia before.


Did you ever have a cholesterol test done, and it was very low?

[Ken_PA]

Well, let's see.. how much to say without overloading you...

"If you were a dr that didnt care about your job what would you tell me to try? To get me out of your office?"
Maybe a Proton Pump Inhibitor (PPI, an acid suppressor) for stomach symptoms.  10-15 Years ago, maybe a tranquilizer like Valium.

"And also what should I be stern about?"
Not stopping until a valid diagnosis. You should *not* be told to settle for less. Your logical thinking ability can be a great asset in that.

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Lots of antibiotics can create a yeast/fungus infection. Famously there are the white candida patches seen in the throat, "thrush" from candida yeast. Neutrophils hate yeast , like lions hate hyenas.

Probiotics and prebiotics can be discussed after your appt if you like. It is a very valid topic.

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So... you are young, female and seem fit. If you started out with a very bad cold then I'd think of Chronic Fatigue Syndrome. More women get CFS.

More women also get a CTD called Ehlers Danlos Syndrome (EDS) which has a range of weird symptoms. More women also get POTS (Postural Orthostatic Tachycardia Syndrome, aka fast pulse and tendency to faint after standing) which van be related to EDS.

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"I went and got the rest of my records today"

Excellent!

"Mildly echodense liver which is most consistent with fatty infiltration..."
Too young for alcoholic fatty liver and too slim for non-alcoholic fattly liver disease (NAFLD).

"...though other hepatocellular processes such as hepatitis can have the same appearance."
That's something to wonder about. Why the apparent liver problem (which might be causing the elevated bilirubin because the liver is not filtering out the products of dead red blood cells as it should do every day)?


AHHAAA!  abetalipoproteinemia can cause fatty liver. Good thinking to mention that. Make sure to tell the doc.

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"Thank you for all your help, by the way."

You're welcome. I think this is solvable, in time.

[Mist33]

reynauds; feel like im out of breath when I stand, instantly dizzy, sometimes my heart races. Doesnt get worse when I touch something cold, though when i am cold or hot my legs and hands turn purple in the cold or red in the heat. Not double jointed but surprisingly flexible.

Um, I went and got the rest of my records today, and I found an Xray they did on my stomach the first time I had stomach problems, 8/21/14. They wrote "Mildly echodense liver which is most consistent with fatty infiltration through other hepatocellular processes such as hepatitis can have the same appearance." Is that something to worry about? My dad and all his sibbling had a disease called abetalipoproteinemia, and his oldest brother was also born with serosis of the liver. I have asked my dr if this was a possiblilty and he always said no. but with my biliruben never going below 1.7, and my lymph averaging at 17, and my ABS poly shooting up from 7.3 to 12.5 within three weeks, now that I am getting deeper and deeper into this,.... Makes me wonder if my liver/kidneys could be a lead..

They had me on a ton of antibiotics three weeks before the blood test i posted. I was given a shot of Rolafen (??? an antibiotic that started with an R), 300 mg of clindamycin a day, 300 MG of cefdinir a day, and then three IVs of clind. as well... I wouldn't think it would be an infection. I am antibiotics every month or so. And why would it make my lab readings for an infection worse?... Unless it sparked an autoimmune something or other.

Thank you for all your help, by the way. I really want my thoughts to be well rounded by tomorrow, I don't want to be lied to either. So I really want to understand what is possible and what is scratch. And I am much more prepared thank to you!

If you were a dr that didnt care about your job what would you tell me to try? To get me out of your office? And also what should I be stern about?

[Ken_PA]

The Raynaud's is interesting. Do you also get it from touching anything cold? If not, I'd wonder if it really is Raynaud's.

"My legs turn bright purple with bright red circles when I stand for more than five minutes without moving."
That could maybe be a Connective Tissue Disorder (CTD), one that is affecting your blood vessels causing blood to pool, and maybe also explains the dizzy spells. There is something called a "tilt table test" that you can ask the internist about. Or pooling can be caused by an malfunctioning autonomic nervous system. Do you get a very fast pulse when standing up after lying down? Are you double jointed?

A CTD can also cause ganglion cysts along the spine.

The 'chronic neutrophilia' is interesting, too. Being caused by a leukemia would be a one in a million case, though -- so it's likely some other cause. A gut infection?

"Could this all be an autoimmune or blood disorder?"
I would think it is possible. And hard to diagnose. Don't forget that when a person has one autoimmune condition, they are more likely to have other autoimmune conditions.

You are what is called "an interesting case", with so many symptoms and no clear explanation.

Good luck to you with your appt tomorrow. I hope you post back here afterwards. Or keep posting today with any other questions or symptoms. It's always best to go into an appointment knowing as much as possible beforehand.