Hi, sorry to hear about your bad experience with that doctor.
You'd have to also post the test ranges.
Can it be a MALT Lymphoma in the intestines? Possibly, but I'm guessing the MRI was done to look for that and came up negative.
What about Crohn's disease? Does some particular food make your symptoms worse?
Well, they have only done mris of my brain, he just knew it was neurological. Then for the past six months they have been shoving antidepressants down my throat saying it's all caused by severe depression and ptsd. Which the depression didn't come until my life started to suck because of being sick. So. No. And no, the only thing that obviously worsens the stomach symptoms is beer. Not hard liquor though. Is there any way to post pictures on here? That would be easiest since there are five blood test.
Abs mono: 1.1 (ref.11-.59)
Abs poly : 12.5 (ref 1.4-6.5)
Lymph : 13 (24-44)
Poly :77 (36-66)
wbc: 15.9 (4.5-10.8)
Occult blood result positive.
It's not unusual for patients with mystery conditions to hear "it's only all in your head". So ironically, it's lucky for you that you have some blood test results which are way out of range because that is clear evidence that something is really wrong.
E.g., neutrophils (absolute polymorphonuclear neutrophils) typically go high to fight bacteria or fungus. Very rarely, a person can have a leukemia of neutrophils. Or it could possibly be the immune system going wacky.
"Which the depression didn't come until my life started to suck because of being sick"
People with unusual immune conditions like Chronic Fatigue Syndrome often say the same thing. It often takes years to get diagnosed.
"the only thing that obviously worsens the stomach symptoms is beer. Not hard liquor though"
Although there is now a very trendy anti-gluten craze which is ridiculous, the fact remains that some people do react badly to gluten. That might increase neutrophils. Does bread bother you? Or maybe it's the yeast in beer.
You can only post photos if you start a new post.
By the way, an ER is not a good place to get a mystery condition diagnosed.
One example of how complex things can be: because of intestinal damage that makes you not absorb nutrients good enough, you can have lots of problems that are offshoots of deficiencies.
Or maybe some deficiency in a part of your immune system gives you that "different infection every week" and so your neutrophils (and WBC) go high periodically. But then some people have conditions where their neutrophils just go high periodically.
A slightly high bilirubin can be high from slight liver damage, or from red blood cells getting destroyed in the blood stream, among other causes.
Possibly the best thing is to see a hematologist, and be prepared for a long period of diagnosis.
Or maybe everything originates in the gut. Why was the MRI done, the one that found the bulging disc? I had guessed that was done to look at the gut and found the disc by accident.
"they have only done mris of my brain, he just knew it was neurological"
If you mean because of the parasthesia (numbness and tingling), that can be from other causes including even Lyme disease.
The dizziness can be from causes besides seizures, such as low blood flow or low oxygen.
Or you can post photos of documents under your profile where people usually post photos of themselves or their cats. (Just make sure any names are blocked out.)
Unti about six months ago, it was the numbness that was bothering us. I broke my foot about a year and a half ago .Got up to go across the room and my feet just went backwards I couldn't feel them and realized too late, even after I fell it took a minute to feel it. And so the mris we're to check my spinal cord and my brain. We were thinking MS. My previous Dr told me there were no signs of it. The only thing that shows in my mri is a"tiny signal change to the right of the midline within the spiine" and retention cysts. I hav.Went to the er twice for my stomach and my previous primary Dr three times. He kept trying to tell me it was my flori, (because of the orbital cellulitis three weeks before, I'd been on a hurricane of antibiotics) but they testedthose at the Dr and that was one thing that was normal.
last time the er they said my left side of my abdomen was hard and swollen, but they couldn't help me, because I Went in for strep. (Second infection after orb. Cell.) No one has ran any test other than urine and stool.
I do have reynauds supposedly. My legs turn bright purple with bright red circles when I stand for more than five minutes without moving.
My wbc is usually normal, it wasonly high the time I went in for my stomach, However my netrophiles are always high. Bilirubin is usually 2.5/2.7. Lymph is always pretty low. Could this all be an autoimmune or blood disorder? .
I have an appointment tomorrow with an internist.
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.
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?
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.
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.
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.
"I went and got the rest of my records today"
"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.
"Thank you for all your help, by the way."
You're welcome. I think this is solvable, in time.
Wikipedia is not *authoritative* a would be journal articles. But it usually is a good place to start. See if your symptoms match:
...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?
This gets more interesting. here is an *authoritative* article on the website of the National Institute of Health (NIH). Every doc knows of that.
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.
The good news is that treatment with tons of fat soluble vitamins seems to work.
"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.
See , that's the weird part. No deficiencies of any vitamins or proteins. One time my hdl cholesterol was low. Supposed to b above 59 and it was at 45 mg. (8/30/14) . The EDS doesn't sound much like what I have.. the abeta could be a late show, though it's a long shot. See,the twothat had the more severe cases of a beta showed some symptoms earlier on. But my dad and the other were just skinny and had a few problems every now and then. Mostly just got sick really easy when they came in contact with anothr ill person. Poor circulation as well... Also both parents have to Carrythemutations. My mom was tested before we were born and she was negative.
I can't believe I never knew about the liver thing... As far as vitamin k goes, I can'tfind anything that says vitamin k on my records.. would there be any other abbreviations? I have noticed my sbscorbiic acid goes tonegative values then up to ten (ref .2-2). Straight to ten, then straight back down. Is there a liver disorder that affects red blood cells? I mean, liver xray,the blood levels, also my rbc Is always low.. this would really describe every single one of my symptoms....
Ok. Well. I'll do some more research. I feel like I understand this stuff better.
Okay, but it's so rare that maybe it isn't well understood? It supposedly requires 2 parents... but maybe one side makes for a mild case with late onset?
I hate to give up in it, I guess.
"No deficiencies of any vitamins"
Vit E was tested for? Sometimes blood levels of nutrients are useless, one has to test in RBCs or otherwise.
"hdl cholesterol was low"
HDL has the alphalipoprotein (not the beta)
"Mostly just got sick really easy when they came in contact with anothr ill person. Poor circulation as well... "
Just like you.
"would there be any other abbreviations?"
Nope, just Vitamin K. (You might have heard of the famous blood thinner Warfarin/coumadin. That's a vit K inhibitor.)
"the liver thing"
the beta lipoproteins are necessary to carry fat out of the liver (aka "export"). I'd maybe avoid fructose for now if I were you.
"ascorbic acid.." is not fat soluble, but is good for the liver, as in hepatitis
" Is there a liver disorder that affects red blood cells?
Outside of getting rid of old RBCs and their bilirubin, I don't know.
" liver xray"
I'd think that was a sonogram since it mentioned 'echodense'. No?
" rbc Is always low"
maybe because of the acanthocytes not being counted on an automated counter
From the cited article:
"Hematologic manifestations of ABL include acanthocytosis.
These abnormal shaped cells comprise 50% or more
of circulating erythrocytes and were among the earliest
laboratory features of the disorder (see Figure 1). Their
structure inhibits rouleaux formation, leading to
extremely low erythrocyte sedimentation rates. Anemia
has been reported in some cases of ABL . "
I think you need a blood smear done. I'd push for that.
Yet how can you have ABL (which seems to be the official abbreviation) yet not have very low cholesterol levels...
Okay, I'll hear from you tomorrow then. Good luck.
Ha, lookee here ( https://en.wikipedia.org/wiki/Acanthocyte ) :
"Acanthocytes arise from either of two mechanisms... abetalipoproteinemia and liver dysfunction."
So let's choose the second option:
"In liver dysfunction, apolipoprotein A-II deficient lipoprotein accumulates in plasma causing increased cholesterol in RBCs. This causes abnormalities of membrane of RBC causing remodeling in spleen and formation of acanthocytes."
Which possibly leads to low HDL but normal LDL, and also the spleen is on the left side where you had that problem.
Btw, lipoproteins are generally made in the liver.
So now we are looking at *not* ABL. we are looking at liver dysfunction.
Or maybe a mild single-parent ABL causes fatty liver which causes the subsequent problems.
and one last thing: "clotting factors" are made in the liver. Being low in clotting factor proteins can lead to easy bleeding. They have names like Factor I, Factor VII, Factor X
I was diagnosedWith ABL. They're doing more tests to see exactly how severe it is. He said that explains the fatty liver and bilirubin. The rest he's not sure about. Sending me for a colonoscopy and to a GI. Those aren't until August though. He seems like agood Dr. Thought it was all very interesting.
So then there is a mild single-parent ABL after all.
After you have a little time to decompress and celebrate, what you need is:
- an insightful treatment approach, which you can begin immediately while being aware of the expected time to onset of benefit
- a diagnosis for the remaining symptoms, which seem to be immune related and possibly associated with but not the same as ABL
Actually I have been doing research. Every single symptom I have had, everything unexplained (miscarriage, the random pcos, the neurological symptoms such as ataxia and cognitive delays, headache, fatigue, stomach pain, irregular bowel activities, muscle weakness, decreasing coordination, lordosis, inability to gain weight) all of these, everything, have been seen in abl patients because when the deficiencies go unnoticed and untreated, they start to affect the brain and other organs. Which I'm sure in some way I can easily relate to tnt terrible immune system. I wrote this off so long ago, and didn't remember all my research. Also I kept trying to compare myself to my dad. Thing Is he has hypobetalipoproteinemia. A little different, and I always forget that. So I was making the wrong comparison. But now that I'm looking at these tests again- the liver, the lordosis, the bilirubin, the low cholesterol (ldl cholesterol was only 29 and he said healthy is at like 100.) And some fresh, deepresearch... This is actuall More serious than I imagined , a really weird life expectancy, and it all makes sense though. Everything. It's actually really interesting. I should write a book. Lol my mind is racing. Anyhow, do you think this is a logical theory?
Look on the NORD website.National org of rare diseases. I went through every disease on there at one point. Really good website, thorough and simple explanation
I had understood you to be saying that your LDL was normal and that you had no nutrient deficiencies (though HDL had been slightly low at one point).
Who has the LDL-C of 29, you or your father? If it is you then yes that changes everything and there is no need to look for any other causation. A 29 is *strikingly* low, like a gigantic red flare that any doc should have alerted to. Strict vegans get down to only 60 or so.
Btw, I had spent more than a little time studying beta lipoproteins a few years ago, so this has even more interest. Cardiology researchers might be interested in you, or the new testing labs...
"I should write a book"
You can start a blog (hopefully Wordpress, not privacy invading google) and you might attract commenters from around the world (ABL and Familial HypoBetaLipoproteinemia patients, clinicians and researchers). Naturally, as you write things out you coalesce your thoughts. You can become a top expert and clearinghouse.
As far as longevity, I think that a dedicated and disciplined person can do far, far better than what the averages say.
So... are you going to rush out and buy broad spectrum vitamin E? MCT oils?
...and this explains the heritability:
"How do people inherit familial hypobetalipoproteinemia?
This condition is inherited in an autosomal codominant pattern. Codominance means that copies of the gene from both parents are active (expressed), and both copies influence the genetic trait. In FHBL, a change in one copy of the APOB gene in each cell can cause the condition, but changes in both copies of the gene cause more severe health problems."
It also turns out that FHBL is not all that rare:
"How common is familial hypobetalipoproteinemia?
FHBL is estimated to occur in 1 in 1,000 to 3,000 individuals."
More blog readers with personal accounts for you :)
So mmy sister came into town, and she has the same Dr so I got her to look up her results .He was lying to her as well. Her ALT and AST are both extremely high, like the ref for the ALT is <=59, and hers is 107. But that's really all that's different except her spinal tap shows two different result for the cell count. They didtwo of the same test and one of them the RBC was 2(r0-2) and on the other it was 59!!! Her lymph % were high (r40-75) at 88 and 85. Monocytes low (r25-46) at 14 and 10. HerNEUT Wwere low at0 and 2 (r23-31). Her calc LDL was 23.6, chol 58, chol HDL ratio 2 (r59) and her tryglyceride 27 (r<150)...
Where were both 5'7, I weigh 134 and can't gain weight. Last time I heard she was 180 and couldn't stop gaining.. it's weird because our tests areoppposite. Where I'm low she's high.. And my ast and ALT are completely normal.. all that's high liverr wise is my bilirubin where hers is always normal. ... And mygeneral protein amount are always in a healthy range (though the lipo have never been tested individually) and hers are low... It looks as if she does have the same thing, but why are the other tests so off? Could we be at different stages? And everyone in my family with abl are extremely skinny. Even if theybhave hypo... Just so weird. Any ideas or a simple explanation I'm skipping over?
As I have been explaining: since I don't know your cholesterol levels, I can't make a good guess on what you are transporting nutrient-wise and what you aren't.