

Save My Life: an update (Celiac biopsy negative) - savemylife
http://savemylyfe.blogspot.com/2010/07/celiac-biopsy-negative-bloodwork.html

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jerf
As said in the previous writeups, the only really conclusive test is "Don't
eat wheat for 3 weeks, then pig out for a meal. You'll know a few hours after
that."

This isn't just experience speaking (though it is, my father was at best
marginal according to the biopsy but it's definitely celiac based on this
test), but also the best current medical research. Biopsies can have problems
where they hit a normal stretch of intestine, even though large chunks of it
are affected. Quite a bit of research remains focused on just the best way to
diagnose Celiac, which is usually not the hard part of a disease, at least
after several years of research. :)

If that doesn't definitively make you sick on the pig-out day, it isn't
Celiac. Small improvements during those three weeks are modestly positive
signs but not really definitive. (In my experience they were mostly within
"placebo" range, but how sick I got after my last pizza was not.)

~~~
carbocation
Since you're invoking the "best current medical research," can you cite the
evidence that says that wheat-deprivation-followed-by-a-giant-wheat-meal is
more sensitive and/or specific than duodenal biopsy for Celiac? Since you skip
around this detail, what is the telltale sign that occurs a few hours after
the meal?

I ask because (1) I am inclined to doubt that this is true, but (2) the
guidelines always lag the latest evidence, so if it is true then it wouldn't
be in the guidelines anyways.

~~~
jerf
Best medical research is a bit coy on this front; they keep trying to make lab
tests and such, but what you'll find is that all the lab tests aren't
definitive. Biopsies aren't definitive, and like I said, I've got personal
local evidence to back this up, though you can find that tidbit everywhere.
The blood serum tests aren't definitive as discussed in the last discussion,
and overlap with other conditions even when it does show there. The genetic
tests aren't definitive because they remain unsure exactly what causes it.
(There are ideas, don't take that to mean there's _no_ clue, but they aren't
_sure_ yet.)

What it comes down to is that the best way to find out is to just _do_ it,
but, well, as much as I love Western medicine in general it seems to be a bit
hesitant to recommend that, they'd rather have a definitive procedure. (Me
too, honestly, but if we can't, we can't.) So it's not like I can point to a
peer-researched paper. It's just that if you dig into any given test, it's
agreed not to be definitive, and the net practical result is that while the
best research won't come out and say it, the best way to see if you have it is
the trial.

And as CapitalistCartr says, the telltale sign is that you will be sick as a
dog, probably well into the next day. I experienced headache (or migraine, if
you prefer, _bad_ headache), nausea, the feeling of my intestines pulsing, and
general lethargy, but I don't know that that symptom list is "official". What
I am sure about is that there will be no mystery left. We're not talking
"moderate chance of loose stools", we're talking "don't make plans for the
next day".

~~~
carbocation
The tests for Celiac are extremely good. 95% sensitivity and specificity? My
life would be amazing if we had that kind of accuracy for every disease.

The bigger problem is probably that people think they have Celiac when they
actually have some other real problem that is not Celiac. Mislabeling things
is deleterious for patient and physician alike. This is why, unless you
actually have evidence to back up your claims about this test, you really
should be much more cautious.

If you can point to controlled trials or published works that show that your
test is sensitive and specific for -- or even associated with -- _Celiac_ ,
I'm all ears.

However, I refuse to accept anecdote. Why not? I accept anecdote only in the
absence of any evidence. We have actual evidence supporting actual tests that,
while imperfect, have known error parameters. The fact that these tests are
imperfect does not mean that your imperfect test is just as good; that's a
logical fallacy.

Sure, if eating X makes you feel bad, don't eat X; nobody would disagree about
that. But don't label it Celiac unless you can show that your home-grown test
faithfully diagnoses Celiac and not something else.

~~~
savemylife
"The tests for Celiac are extremely good. 95% sensitivity and specificity"

Well my bloodwork came "strongly positive", and the biopsy was negative. So
what do we make of that?

~~~
carbocation
Your first bloodwork was neither here nor there. Your second bloodwork was
positive. At that point, you rightly earned a biopsy. The biopsy is the
definitive diagnosis, unless you had been on a wheat-free diet prior to the
biopsy (which would cause the duodenum to return to normal). That wasn't the
case, right?

Now, the _interpretation_ of the biopsy might not be great. Have you
considered asking your GI to send it to (somewhere else of your choosing) to
get a second opinion?

 _Edit_ For some reason, your other posts seemed to convey that your GI was
not very confident in her biopsy of your duodenum. This does make me a bit
nervous. This is why it's hard to play doctor over the internet. If we were in
real life, I could probably get a much better sense of whether or not to trust
the biopsy. Hopefully her biopsy is at least good enough to prove to an
outside reader that she did indeed biopsy the duodenum...

~~~
savemylife
I actually did go gluten-free for about 7 days prior to the biopsy (yeah, that
was dumb). When I had my GI appointment, she had me go back on gluten for 3
weeks prior to the procedure, which I dutifully did.

She said I was _extremely_ uncomfortable during the procedure, more so for the
colonoscopy than the endoscopy/biopsy. I don't think she said outright that it
prevented her from getting good samples, but she did say that it might make
sense to repeat the procedure in a few months if the genetic test comes back
positive, or if the gluten-free diet produces a positive result (of course
with appropriate gluten-challenge beforehand). She said that if we do that
she'd give me full anesthesia so that she can get further into the tract for
samples.

I would certainly consider asking for another interpretation of the biopsy. Do
they actually keep them around for that kind of thing? Where would I request
it to be sent?

Thanks very much for your insight, carbocation.

~~~
carbocation
Not dumb — in fact totally understandable — but yeah, that may confound
interpretation of the test. Does your GI doc know this?

I'm not fully versed in the art of asking for another opinion, but I think it
would be reasonable to get your doc involved. You could basically say that you
appreciate the care she's given you and want to keep her as your GI doc (if
true) but you'd also like to get another person to take a look at the biopsy
sample, since it is obviously a very valuable and hard to get piece of tissue.
I'm sure she could recommend another person to interpret the samples for you.
I'm not positive that Celiac biopsy samples are kept, but I know that many
other biopsy samples are, which is why I suspect that these are, too. At the
very least, they should have images of the samples. Based on her apparent
discomfort with the procedure, I'm half wondering if there was a
misinterpretation, and I'm half wondering if she was unable to biopsy the
right tissue; both of these concerns could be resolved by a third party. It
wouldn't be cheap, but it has a small chance of saving you from having to do
another biopsy.

That said, in the setting of a one week wheat deprivation diet, interpretation
probably won't be totally clear even if you did have Celiac, so a second
opinion on these samples may well not be worth it.

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carbocation
Tissue biopsy is the gold standard for Celiac diagnosis; the blood tests are
used to help determine who needs a biopsy (although it is true that some
people think the biopsy is unnecessary). A normal biopsy procedure actually
involves multiple biopsy specimens from nearby parts of the duodenum to be
taken, so if they followed protocol it is unlikely that they missed the more-
or-less pathognomonic signs of Celiac.

That said, if you _do_ have Celiac and the biopsy was wrong (it happens), then
your symptoms should actually take quite awhile to resolve. This is because
part of the symptomatology comes from the derangement of the duodenum (villous
atrophy, etc). Only by allowing it to heal over weeks to months would you
expect to see real improvement.

I doubt that you have Celiac, given the biopsy results, but there is truly no
harm in trying the diet.

Also, the genetic test is definitely less sensitive and less specific than the
biopsy; I'm not sure why your doctor recommended this afterwards.

~~~
savemylife
The doctor wants to run the genetic test because if that's negative, we can
rule out Celiac. A positive result would only indicate that it's still a
possibility. If the bloodwork had come back negative she wouldn't have
bothered, and just rule out Celiac then and there, but it was "strongly
positive".

~~~
carbocation
This is not how the diagnostic chain for Celiac is designed to work.
Optimally, you would proceed like so: (a) patient has symptoms consistent with
Celiac; (b) patient gets tested for either antibodies (e.g., antiendomysial
IgA) or genetics; (c) if 'b' is positive (or sometimes if it is negative and
clinical suspicion is strong) then biopsy is performed.

Since the biopsy is both more sensitive and specific than the genetic test,
one should not side with the genetic test over the biopsy in most
circumstances. The genetic test cannot rule out Celiac. Why? The genetic test
looks for specific _common variants_. It cannot discover anything that is not
already in the database; therefore, it cannot rule out Celiac for you - it can
only make it more likely or less so. (As an aside, this is why treating
23andme as a medical tool can be dangerous. Let's say you have common genetic
variants protective for breast cancer -- but, lo and behold, you also have a
rare variant previously undescribed in the literature and not captured by the
23andme chip. You actually have a high risk of cancer, but would think just
the opposite based on the common variants examined by 23andme. Sorry for the
lengthy aside.)

Let's say that Celiac is 100% determined by your genetic variation. It's still
possible that there are common variants that cause Celiac, and rare ones. The
tests that we have right now only look for relatively common variants, which
is why they have varying accuracy in people of different genetic backgrounds
but generally are positive in 95% of people with biopsy-proven disease...
which gets me back to my main point, which is that you have a biopsy; the
genetic test is nothing more than a waste of your money from a biological
standpoint. From a peace-of-mind standpoint, I can appreciate why you want
this.

~~~
savemylife
Thanks for the explanation. I hear you on the genetic testing. The whole
process is frustrating. I do realize that I sound like that patient who wants
to have "disease X" at any cost, and is looking for loopholes in the
diagnostics.

But I want to know what's wrong with me, and what I can do to get better. This
whole Celiac thing is really starting to feel like yet another dead end for me
(Lyme Disease, Fibromyalgia, Sleep Apnea, Psychiatric, etc; just add it to the
list.)

Still, I want to give it a good shot, and that seems to mean staying on the
diet for a few months and see if I improve. If I feel better, who cares what
the tests say? Though it would be nice to have confirmation, I just want to
feel better.

~~~
carbocation
Yes, as I suggested in another post in this thread, there is absolutely no
risk in doing the no-gluten diet (except maybe higher cost of food), so there
is basically no downside. Your expected benefit is greater than or equal to
zero, so keep it up!

------
mey
[http://distractible.org/2010/07/14/a-letter-to-patients-
with...](http://distractible.org/2010/07/14/a-letter-to-patients-with-chronic-
disease/)

~~~
carbocation
This is an excellent letter written by a doctor who clearly cares and who
offers several pieces of actionable advice. Thanks for sharing.

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starkfist
I had the same symptoms as you about 5 years ago, and it was from having a
poor diet and an anxiety disorder (that i did not want to admit I had).

~~~
kmano8
I also had some similar symptoms 2 winters ago. Turned out to be anxiety,
stress, mediocre diet, and a bit of hypochondria. What finally got me out of
the rut was taking a trip to San Diego, spending time with friends away from
my commute in the cold/dark hours, and realizing that maybe it was all in my
head. It was difficult for me to accept that I could be psychologically
messing with myself, but this was ultimately the problem.

~~~
grandalf
Congrats for realizing that those sorts of "minor" things can have a
significant impact. I think that this guy has something similar, which is why
I suggested he go to Costa Rica in the last HN story.

~~~
kmano8
Thanks. It all started in some October when I had some sort of bad reaction to
something (maybe food) that caused a massive headache/vomiting all day for me.
I got pretty worried about the cause. The headaches nagged everyday on through
winter and into March (when I finally went to California).

I went to specialist after specialist.. had blood tests, MRIs, etc. The actual
headaches were real and not just in my head, as it were -- the search for
something that wasn't there was really what brought me down.

And ps- symptom checking online is the worst thing I did to myself (can't
stress this enough).

~~~
grandalf
Symptom checking online is a huge mistake, I agree.

It's fascinating to think about the role of an "official, correct diagnosis"
into the psychological aspect of the suffering.

The most uncomfortable suggestions are those that are accompanied by not
reassuring stamp of authority. _What, go to Costa Rica and eat fresh fruit and
swim and learn to surf? That's crazy, what I need is a pill... etc._

It's not just health but the experience of feeling/being healthy/unhealthy
that is profoundly important.

It's rather humbling how complex the human body (below and above the neck)!

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metamemetics
Why would you need to pay for a test? Just stop eating wheat and eat corn
tortillas, rice, buckwheat, etc.

1) Have you used a nutrition calculator for 1 week to see if your typical diet
is malnourished?

2) Have you tried boosting niacin intake for peripheral tingling?

3) Have you tried increasing intake of antioxidant and antiinflammatory foods
such as dark chocolate, turmeric, blueberries, and fresh fish?

4) Do you wake up at the same time every morning?

5) How many grams of protein do you consume a day and what is your body
weight?

6) What are the different antidepressant or stimulant medications\supplements
you have tried for fatigue?

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skyjumper
Another diet to experiment with is the No Starch Diet. There's a lot of
anecdotal evidence suggesting that starches somehow trigger an autoimmune
reaction in some people leading to Ankylosing Spondylitis and possibly others
like Irritable Bowel Disease.

It's not an easy diet to follow, but the food test is simple - red iodine
turns blackish blue in contact with starch.

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mcantor
I have some friends who are very knowledgeable about the Cleveland medical
community; I am told that Dr. Tanya Edwards is someone you should seek out, at
the Cleveland Clinic. You might have to wait a bit for an appointment, but
she's the foremost expert on holistic medicine in the region.

Good luck!

~~~
savemylife
That's a good local reference to have, thanks!

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Alex3917
For what it's worth, I just started taking the Core 5 vitamin set from
mercola.com and it seems to really work. I sort of ordered it in a moment of
weakness, figuring that it was probably a scam but for 100 bucks it was worth
trying for 30 days. I'm only a week in, but I really feel better than I've
felt in a long, long time. Which is weird because I was already taking a
multivitamin, Omega-3, and 800IU of vitamin D, but I wasn't getting nearly the
same effect. Even if it's just a placebo, at $100 bucks a month I'm happy to
pay for it if the improvement is sustained.

Anyway I have no idea if there is actually just meth in these and that's why
they make me feel so good, or what the longterm safety/efficacy is, but I just
wanted to recommend it as an option. It could turn out that you're just
deficient in some random thing, and just paying a hundred bucks and taking a
crapload of everything for 30 days is a lot cheaper than getting tested for
every possible nutrition deficiency, and you'll know within a couple days
whether it's working.

~~~
patrickgzill
I have no experience with the mercola.com vitamins; however, I can attest to
positive experiences with the (cheaper) vitamin/mineral combination found in
the "Alive!" vitamins: <http://www.amazon.com/gp/product/B0009F3RO2/> . Also
cheaper (60 day supply for under $30). I, my wife, and my mother-in-law have
all had good results.

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jeb
Did you test for sleeping sickness:
<http://en.wikipedia.org/wiki/African_trypanosomiasis>?

Western doctors rarely check for African diseases.

~~~
carbocation
Since the natural history of people with sleeping sickness is to die within
four months to one year of onset of CNS symptoms, this seems unlikely.

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DotSauce
Have you tried prayer, friend? I'll get you started.

~~~
nroach
Why would this get modded down in light of the topic? People are suggesting
vitamins, sleeping sickness, and all other manner of diagnoses and potential
cures. I don't see why prayer should any less valid as a topic of discussion.

Besides, what's Celiac disease have to do with technology, startups, or
Y-Combinator in general? The whole thing seems far off topic to me.

My 2c: I certainly wouldn't avocate relying on prayer to the exclusion of
other remedies, but as part of the big picture, down-modding seems a bit
extreme.

~~~
philwelch
Prayer doesn't work. You'd get modded down just as much around here for
suggesting homeopathy or something.

Plus, suggesting prayer (especially with something like "I'll get you
started") is a popular opener to the always unpopular and antisocial practice
of trying to convert other people to your religion, which is doubly a dick
move when you target vulnerable people, like the chronically ill.

