Diagnosis Help/ Genetic Markers

[deltalima21]

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

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Permissive genes absent. Celiac disease extremely unlikely.

DQ alpha 1

01,02:01

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Not Applicable

DQ beta 1

03,05

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Not Applicable

Serologic Equivalent: 9,5

Celiac gene pairs present?

No

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Method: Low to Medium or High Resolution Molecular Testing

Any help or thoughts would be extremely appreciated!

[foam]

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.

[ravenwoodglass]

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.

[Deaminated Marcus]

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?

[ravenwoodglass]

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.

[deltalima21]

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.

[deltalima21]

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