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Diagnosis Help/ Genetic Markers
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7 posts in this topic

Hey everyone,

I have experienced swelling/arthritis type in my joints(right ankle, knee, left wrist). Also had torn tendon in right foot with no specific trauma.

Many blood tests have taken with results normal, a few of the abnormals

35 iron,

21 vitamin D

Leukocyte s 12

Neutrophils 7.88

Monocytes 1.18

LgA <1.2

LgG 7.0(weak positive)

C reactive protein 67.9

Upper endoscopy revealed scalloping of duodenum with normal villi architecture. Biopsy showed higher white blood cells. At this point doc said I had celiac disease. My mother, also a physician got tested and showed negative genetic markers. My doc was unwilling to order genetic test and my mom ordered for me anyways. Here are the results:

Celiac Disease Interpretation

May 03, 2013

See comments

Show historical results

Permissive genes absent. Celiac disease extremely unlikely.

DQ alpha 1

01,02:01

Show historical results

Not Applicable

DQ beta 1

03,05

Show historical results

Not Applicable

Serologic Equivalent: 9,5

Celiac gene pairs present?

No

Show historical results

Method: Low to Medium or High Resolution Molecular Testing

Any help or thoughts would be extremely appreciated! :)

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Some stuff majorly out of whack with you, I'd fix the Vitamin D for a start since that's easy and something you can certainly control yourself. I'm pretty jealous of your massive Neutrophil count... I have almost none :)! well 1.8 usually, it's long way from 7.88.

 

I agree you are very unlikely to have a problem with celiac disease considering you have no genes for it. But that doesn't mean something else isn't messing with your gut/immune system. Get the Vitamin D up to 100+ and see what changes, that would be my first step.

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Unfortunately gene testing can be problematic if you don't have one of the two most common genes for celiac. That doesn't however mean you can't have it. My genes are a case in point. I am firmly diagnosed but lack either of those two genes. However in the Middle and Far East the genes I carry are considered to be associated with celiac. It can be very confusing but if you respond well to the diet you have the answer as to whether you should be on it regardless of what the genes you carry are, IMHO.

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Did you do a celiac panel such as this one:

 

Total IgA
Transglutaminase IgA      tTG-IgA 
Deaminated Gliadin IgA   DGP-IgA
Deaminated Gliadin IgG  DGP-IgG

 

 

Can someone explain to me how she can have: "scalloping of duodenum with normal villi architecture" ?

 

Why is the villi normal with the scalloping?    

 

Anyone know?

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Did you do a celiac panel such as this one:

 

Total IgA

Transglutaminase IgA      tTG-IgA 

Deaminated Gliadin IgA   DGP-IgA

Deaminated Gliadin IgG  DGP-IgG

 

 

Can someone explain to me how she can have: "scalloping of duodenum with normal villi architecture" ?

 

Why is the villi normal with the scalloping?    

 

Anyone know?

The damage to the villi can be patchy and easily missed. The scalloping can also be seen early on before severe villi damage is present.

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Don't believe that the celiac panel you are referring to was ordered. The only blood tests for that was what I already posted with lga and lgg.

Here is pathology report:

DIAGNOSIS:

A. Duodenum, second part, endoscopic biopsy: Patchy

intraepithelial lymphocytosis (30-50/100 epithelial cells) with

normal villous architecture. Plasma cells are present but there is

no increase in lamina propria inflammation and no foamy macrophages.

Comment: Increased intraepithelial lymphocytes with normal villous

architecture can be seen in symptomatic, latent or partially treated

gluten sensitivity (celiac sprue), dermatitis herpetiformis, and

first degree relatives of gluten sensitivity. Other associations

include systemic autoimmune disorders and NSAID use.

B. Duodenum, bulb, endoscopic biopsy: Chronic peptic type

duodenitis. There is focal equivocal increase in intraepithelial

lymphocytes.

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My case has been forwarded to a Celiac expert, so we will see what awaits.

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    • Oh, and as I mentioned in my own post on pain, xanax. I swear. I tried it just to deal with the occasional panic I had at weird scary symptoms and clueless doctors. I am not a fan of long term use. But I recently found that .25 mg seems to aid with the neuropathic pain. It does not go away, but it helps. 
    • It does sound like a Glutening and you are just a few months into the diet.  It might help if you read our Newbie 101 thread under the "Coping" section.   Here is some information about rice milk: https://www.verywell.com/is-rice-dream-gluten-free-562354 Many, many celiacs are often lactose intolerant temorarily or permanently if you are naturally genetically inclined.  When I am glutened, I lose the ability to digest lactose for a while.   Salad?  Great but it can be rough on a sore gut!  Think soups, stews, easy-to-digest foods that you prepare yourself until you feel better.  Did your folks give you salad after a bout of flu?  Or did you stick with jello and broth?  I am intolerant still after three years to garlic and onions (the lactose resolved, thankfully).  You have a leaky gut (Google zonulin and Dr. Fasano who is a leading celiac researcher to verify that this is true) and that means you can become intolerant to anything (hopefully, just temporarily).   If you are 100% sure that you have had no access to gluten....did you eat out lately?.....then see your doctor.  Remember, celiac disease symptoms can change.  And here is the biggie.....it can take weeks, months or years to heal from celiac disease.  Two months in is nothing, really.  Why?  It takes time to figure out the diet and time for antibodies to come down.  celiac disease is an autoimmune disorder triggerEd by gluten.  once triggered it can go on and on damaging your gut especially with repeated glutenings (accidental or through cross contamination). I hope you feel better soon!  
    • I concur! I literally feel your pain as well. Like, at the moment, lol. Did you have an endo to see inflammation or damage? I am close to begging my GI for carafate or something to coat and protect. How about testing your antibodies to see if they are still rising? I read somewhere here rice milk may not be a good option.  Folks here have also suggested to me to stick with whole foods. Limit processed. Especially stuff that is not certified gluten-free, like chex. I think small amounts of gluten are in processed foids and can add up. I too reacted to lettuce the other day like I was ingesting glass. My sibling  had a food sensitivity panel done and it came back positive for a few things he had been eating a lot of. He can now eat them, but had to cut them out of his diet. Lettuce is probably on mine.  I have been drinking carrot and pomegranate juice,  dandelion root tea with hiney, aloe water, lots of squash, fish. Mild, no garlic, no onions or hot sauce. No coffee. It sucks.  Inflammation can tick off other organs, you mention a "Pain below". Not exactly sure which side, but certainly call your doc Monday. Sooner if the pain increases.
    • You should see a GI specialist before you go gluten free.  They should do a upper endoscopy to check for celiac damage.  Colonoscopy won't show anything related to celiac.  Also no you should not feel worse on gluten free, you should feel better.
    • So ok, I get the pain/bloating thing, but it still feels so crazy. But my god, I look 6 months preggers after dinner and 4 months the rest of the time. How long will this last?! I have not gained any weight but have to hide me belly now. I can hardly breath! Omg, that does take me back to pregnancy.  I had "acute marked focal duodenditis" a few weeks ago and an elevated DGP. the pain sometimes makes me seriously think I must be bleeding somewhere. It is actually worse then 3 weeks ago. Although many of the other glutening symptoms are finally vanishing. Even my mid and lower back is tender to touch. Sometimes it burns, aches or like someone is stabbing me in my side. My ribs hurt and everything is tender.  I am on protonix and fish oil. I have a prn for xanax which helps the pain (off market use for muscle relaxant).    I am fair skinned and notice a red under-the-skin discolored rash that comes and goes on my upper stomach. Sometimes it travels down one side. Not itchy. Almost like I can actually see the inflammation under my skin.  1) when will I stop looking knocked up?  2) Any other fair-skinned folks notice a purpleish-red rash on your bellies? It mostly goes away and comes back, which I tske to be a good sign. 
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