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Diagnosis Help/ Genetic Markers


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6 replies to this topic

#1 deltalima21

 
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Posted 07 May 2013 - 07:55 AM

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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#2 foam

 
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Posted 07 May 2013 - 08:59 AM

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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#3 ravenwoodglass

 
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Posted 07 May 2013 - 09:00 AM

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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Courage does not always roar, sometimes courage is the quiet voice at the end of the day saying
"I will try again tommorrow" (Mary Anne Radmacher)


celiac 49 years - Misdiagnosed for 45
Blood tested and repeatedly negative
Diagnosed by Allergist with elimination diet and diagnosis confirmed by GI in 2002
Misdiagnoses for 15 years were IBS-D, ataxia, migraines, anxiety, depression, fibromyalgia, parathesias, arthritis, livedo reticularis, hairloss, premature menopause, osteoporosis, kidney damage, diverticulosis, prediabetes and ulcers, dermatitis herpeformis
All bold resoved or went into remission with proper diagnosis of Celiac November 2002
Some residual nerve damage remains as of 2006- this has continued to resolve after eliminating soy in 2007

Mother died of celiac related cancer at 56
Twin brother died as a result of autoimmune liver destruction at age 15

Children 2 with Ulcers, GERD, Depression, , 1 with DH, 1 with severe growth stunting (male adult 5 feet)both finally diagnosed Celiac through blood testing and 1 with endo 6 months after Mom


Positive to Soy and Casien also Aug 2007

Gluten Sensitivity Gene Test Aug 2007
HLA-DQB1 Molecular analysis, Allele 1 0303

HLA-DQB1 Molecular analysis, Allele 2 0303

Serologic equivalent: HLA-DQ 3,3 (Subtype 9,9)

#4 Deaminated Marcus

 
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Posted 07 May 2013 - 09:20 AM

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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#5 ravenwoodglass

 
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Posted 07 May 2013 - 09:24 AM

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.


  • 0
Courage does not always roar, sometimes courage is the quiet voice at the end of the day saying
"I will try again tommorrow" (Mary Anne Radmacher)


celiac 49 years - Misdiagnosed for 45
Blood tested and repeatedly negative
Diagnosed by Allergist with elimination diet and diagnosis confirmed by GI in 2002
Misdiagnoses for 15 years were IBS-D, ataxia, migraines, anxiety, depression, fibromyalgia, parathesias, arthritis, livedo reticularis, hairloss, premature menopause, osteoporosis, kidney damage, diverticulosis, prediabetes and ulcers, dermatitis herpeformis
All bold resoved or went into remission with proper diagnosis of Celiac November 2002
Some residual nerve damage remains as of 2006- this has continued to resolve after eliminating soy in 2007

Mother died of celiac related cancer at 56
Twin brother died as a result of autoimmune liver destruction at age 15

Children 2 with Ulcers, GERD, Depression, , 1 with DH, 1 with severe growth stunting (male adult 5 feet)both finally diagnosed Celiac through blood testing and 1 with endo 6 months after Mom


Positive to Soy and Casien also Aug 2007

Gluten Sensitivity Gene Test Aug 2007
HLA-DQB1 Molecular analysis, Allele 1 0303

HLA-DQB1 Molecular analysis, Allele 2 0303

Serologic equivalent: HLA-DQ 3,3 (Subtype 9,9)

#6 deltalima21

 
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Posted 07 May 2013 - 10:01 AM

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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#7 deltalima21

 
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Posted 09 May 2013 - 07:20 AM

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