Re: Frustrated with Doctors!

[Guest guest]

>

> I just had a frustrating day with my husband's GI Doctor.

> This

> summer my 2 year-old daughter was diagnosed with Celiac Disease.

> Her blood tests were all negative, but she had enough symptoms that

> the pediatric GI consented to do a biopsy. The biospy came back

> with " chronic inflammation with villus atrophy, increased

> intraepithelial lymphocites and plasma cell infiltrate. " So we put

> her of the GF diet and she has done so well. I feel like it is a

> miracle.

pediatrician seems to be on the ball.

> Then after talking to her doctor he recommended that we get my

> husband biopsied based on his history of symptoms. He couldn't do

> the biopsy becuase he is pediatric, but strongly encouraged us to

> get it done. We did so, and to our surprise the result

> was " normal " .

Biopsy is a positive indicator, there are false negatives.

See the literature.

> We didn't feel good about it still and decided to try

> the diet just to see. Now 8 weeks later, his rash on his face is

> clear, his stomach feels better and his headaches are diminishing.

> So we decided to get the Enterolab tests done. Here are the

results:

Was IgA levels tested first.

> Gluten Sensitivity Stool Test

> Fecal Antigliadin IgA 11 Units (Normal <10 Units*)

Where is the IgG test?

> Stool Test for Autoimmune Reaction to Tissue Transglutaminase

> Fecal Antitissue Transglutaminase IgA 7 Units (Normal <10 Units)

Where is the Serum IgG test?

> Stool Test for Small Intestinal Malabsorption

> Microscopic Fecal Fat Score: 332 Units (Normal < 300 Units)

>

> Stool Test for Milk Sensitivity

> Fecal anti-casein IgA antibody 6 Units (Negative <10 Units)

Anti-casien is not a good indicator of CD.

> Gene Test for Gluten Sensitivity

> Molecular analysis: HLA-DQB1*0201, 0302

>

> Serologic equivalent: HLA-DQ 2,3 (Subtype 2,8)

HLA DQ Type is HLA DQA1*0301:DQB1*0302 (DQ8)/HLA-DQA1*0501:DQB1*0201

(DQ2.3) Good job on getting the typing done! Either way your husband

is the carrier of your childs DQ predisposition. All children you

have will either have one or the other so all can be at risk :^(,

But at least you know.

Lets pretend there is no biopsy.

What are the risk factors for CD.

1. DQ2, DQ8 DQ2/DQ8 has a 60% higher risk than either alone, 5%

higher than DQ2/DQ2 or DQ8/DQ8.

2. Family member with CD.

3. Anti-gliadin antibodies

4. Associated diseases

5. Age 1 to 4 years (early onset) 30 to 40 years (late onset)

The risk of CD with the type you mentioned is between 1:15 and 1:25

about 8 fold higher than the general population.

The risk for a family member is 1:25 or 5 fold higher than the

general population.

The risk with anti-gliadin Abs abnormal is 20 fold higher than the

general population. The type of antibody will be to alpha and may

migrate to omega gliadin.

Antibody risk factors are only germane if the individual is eating

wheat at the time of serological sampling took place within a week or

so.

However not to disagree with the doctors, your husband sounds younger

than his mid thirties, he may have not reached that 'late onset' age

which converts protoCD to CD. Eating small amounts of wheat might not

convert him to CD.

What does the science say. Italian studies revealed that family

members of CD patients with associated DQ types can convert from

normal to CD spontaneously (meaning that they followed a number who

were normal and in some percentage of cases they became CD).

Therefore even if there were no false negatives, he is at risk, I

would say pretty high risk based on above risk factors. It makes

however no mention of gliadin consumption and spontaneous conversion.

I hope this demonstrates the usefulness of DQ types here. If your

husband failed to present either type we would eliminate the

possibility(his risk would be 5% relative to yours), because he had

at least one, we consider him to be a carrier, with some risk, with

both types he is the carrier at higher risk. Not only that but his

family members are at risk and they should also be typed. DQ type

shows risk from birth to death, none of the other test can predict

risk one correlate with disease. BTW just because he carried the type

doesn't mean you also are not a carrier, you are still at risk since

your child is CD. Aint genetics wonderful, we can track genes all

over the world and cause people who worry to much to relax, and

people who relax to worry. lol.

Put it all into perspective.

Gliadin triggers CD

transglutaminase is the autoimmune target

HLA DQ mediates the autoimmunity

Other factors enhance autoimmunity

T-lymphocytes recieve the mediation

They have a big party in your GI tract.

Without Gliadin DQ is not a risk factor for CD. Without HLA DQ tTG

doesn't become a target of lyphocytes,

paper, scissors, rock.

Background (Molecular Evolution)

A little info on the types. DQ2.3 is found along the western coast of

europe to north africa at its highest frequency. It extends from

western china to southern india and anywhere western europeans have

settled. It likely moved from N.Africa to western europe via the

basque to Ireland and then spread eastward to the Nordic peoples and

Spread with the vikings eastward. It is the predominant type in

scandinavia and western europe, Sardinia and Northern Iberia are the

highest. The origin was probably N. Africa. It is not a mutant type.

DQA1*0501 is found with other DQB1 and *o2 is found with other DQA1.

Therefore this haplotype derived from intergenic recombination, my

guess is prior to the entry of modern humans into europe >50kya.

DQ8 has a sharp nodal peak in the Guayaki Indians of south America at

the highest nodal frequency of any DQ type for any single people in

the world with a haplotype frequency of 75%. It is found in the

amazonian lowland population and declines in mexico. It is present in

native peoples derived from the SE united states. In Asia the pre-

yayoi (ancient) Japanese (Jomonese) appear to be the origin of the

south american haplotypes, and these probably originated in Africa

via Indonesia and middle east. DQ8 is one of the worlds most

ubiquitous haplotypes and is found from africa to eastern and

southern europe to india and the new world. It is possibly one of the

humans oldest, at least 100,000 years in age, I would not be

surprised if it was considerably older. Of course it is not a mutant

type.

DQ2/DQ8 is found in admixed populations between Iberians and Native

americans in Mexico, Mesoamerica, US, South America. Even so

clinicians claim that CD is not a disease of Native americans,

something I strongly disagree with. It is also found at high

frequencies in the finnic and swedish populations. The CD risk for

the haplotype combo was determined from NW europe.

The real mutants.

Wheat is a polygenomic plant, it was created by the chimerization

of 2 forms of wheat to form emmer's wheat, duram wheat then

hybridized. There are dozens of wheat strains, all of them of human

origin. It is believe that one component of modern wheat came from

the indus valley, one from anatolia or europe and the third from the

fertile crescent. Spelt and emmer's wheat can grow wild. Wheat like

seeds are found in Isreal dating to 22,000 years ago. Their gluten

content was not high.

The derisably quality for wheat were grains that did not fall off

and fat waxy seeds, gluten in wheat is like glue and keeps the grains

coherent for harvest. Gluten has the desirous quality for storage and

processed foods, particularly the omega gliadins have a tremendous

glue like quality that are insoluble in water, they do not wash away.

These qualities may wheat desirous for making pasta and dumplings,

helps breads to rise to great heights and preserve the structure of

levened bread during cooking. The protein of question is called

glaidin, it is made of poly glutamine tracts and has a very unusual

structure. Its a storage protein, a binding protein, a source of

nitrogen for a growing plant. The quadrapeptide motif found in

gliadin is a target for tTG, an unnatural target, with this target it

can modify gliadin to be presented by HLA DQ and only 2 HLA DQ.

It is not difficult to see that the culprit here is not the DQ,

they have been around since the beginning of time, the culprit is

wheat, your ancestors did not eat it, and now you do. It is a little

like cows milk for asians, or alcohol for native americans, or sugar

for native americans.

Gluten use is on the increase, foods with higher or added gluten

are becoming more common, gluten is being artificially deamidated,

people are at risk for CD at a higher frequency than 100 years ago.

Even so within the last 100 years people have died from CD never

knowing what they had. CD was first recognized in failure to thrive

childern in S. europe. The fatality rate was 50%.

[Guest guest]

Philip,

You know so much about the genetics of CD. When I had an amnio while

pregnant with my 11 year old son, I was told that they didn't know the

markers for CD. They've come a long way.

Do you have any information about the prevalence in different

ancestries? My husband's brother's wife is from Malaysia. Her features

appear Chinese. She has the same GI symptoms as my mother- in- law with

celiac, but my mother-in-law doesn't think she can have it because she

doesn't have British ancestry. (Back when my husband was diagnosed, the

literature we read said it was most prevalent among the British.)

Thanks,

[Guest guest]

> Philip,

> You know so much about the genetics of CD. When I had an amnio

while

> pregnant with my 11 year old son, I was told that they didn't know

the

> markers for CD. They've come a long way.

They have known these types for a decade and half. The problem is

that about 1:25 persons with DQtype will have a version of CD and

therefore there are other markers. Problem is that linkage analysis

does not show an great linkage.

> Do you have any information about the prevalence in different

> ancestries? My husband's brother's wife is from Malaysia. Her

features

> appear Chinese.

B46

> She has the same GI symptoms as my mother- in- law with

> celiac, but my mother-in-law doesn't think she can have it because

she

> doesn't have British ancestry. (Back when my husband was diagnosed,

the

> literature we read said it was most prevalent among the British.)

The clinicians claim that Native Americans don't get CD. There is a

paper out from chile claiming that indigeonous people with DQ8 do get

CD. CD exists in Japan, which I believe has some higher pockets of

DQ8 because of the pre-Yayoi components (22%) in that population.

About 70% of Japanese genes come from Korea, the other 8% from China.

There is no DQ2.3 in Japan. The level of DQ8 in Japan is several fold

higher than korea and cannot be explained by chinese immigrants,

therefore this serotype was present in the Pre-Yayoi population at

very high frequency. Some of this came from indonesia via west

pacific rim but 'DQ8' is also high in Jordon, and Japanese show some

more direct genetic contribution from the middle east. Whatever the

reason the gf in this region was once high. Japanese share with

native americans similar HLA haplotypes A, Cw, B, DR, DQ which

frequently bear the 'DQ8' (DQA1*0301:DQB1*0302). This was probably

the first haplotype in the new world.

I wonder does anyone here have Native American ancestry to a

significant degree? I traced my DQ8 back to an NA ancestor.

All Nippon Airways (ANA) changed the menu for children on its

international flights because parents were complaining, from what I

understand they were adding too much wheat.

Native americans dn Asians don't tend to get CD because they don't

eat that much wheat. When they do, they can get it. I would expect

that the rise in these populations will coincide with the rise in

type II diabetes in the same populations.

In another recent study addressed this bias, because the europeans

were claiming that CD in europeans was more severe with the DQ2.3

haplotype. A study from new york revealed that patients with DQ8

predominated the patient population and that the disease was just as

severe.

My concern is that some clinicians do not test certain groups of

people for CD because a predisposed bias that they will not get it.

Of the people I have screened the highest antibody levels were found

in an african american.

Remember one thing, there are gliadin allergies and intolerances.

The allergies will not progress to CD but cause discomfort. In Asis

the B46 allele tracts wet rice farming peoples, and there may be

genetic adaptations to rice farming not associated with DQ. The only

way a person can be at the greatest risk is to have the DQ type, with

the possible exception of africa, in which the risk associated with

all the variant types cannot be established.

For example asians have Lactose intolerance because the B-

galactosidase gene declines as they age. Not because of CD.

They can have dermatological and respiratory problems handling

wheat, such as bakers asthma.

Unless a person is in the hospital with some obvious GI

catastrophe, you can't diagnose CD without some sort of testing.

[Guest guest]

I have seen quite a few people post in other forums whose biopsy came

back negative. My personal feeling is, if he feels better, then

follow the diet. That's all he could do whether he was " diagnosed "

or not. I do not have an " official " diagnosis, but do know that

eating gluten - even once - will cause me a great deal of gastric

distress and other problems.

>

> I just had a frustrating day with my husband's GI Doctor. This

> summer my 2 year-old daughter was diagnosed with Celiac Disease.

> Her blood tests were all negative, but she had enough symptoms that

> the pediatric GI consented to do a biopsy. The biospy came back

> with " chronic inflammation with villus atrophy, increased

> intraepithelial lymphocites and plasma cell infiltrate. " So we put

> her of the GF diet and she has done so well. I feel like it is a

> miracle.

>

> Then after talking to her doctor he recommended that we get my

> husband biopsied based on his history of symptoms. He couldn't do

> the biopsy becuase he is pediatric, but strongly encouraged us to

> get it done. We did so, and to our surprise the result

> was " normal " . We didn't feel good about it still and decided to

try

> the diet just to see. Now 8 weeks later, his rash on his face is

> clear, his stomach feels better and his headaches are diminishing.

> So we decided to get the Enterolab tests done. Here are the

results:

>

> Gluten Sensitivity Stool Test

> Fecal Antigliadin IgA 11 Units (Normal <10 Units*)

>

> Stool Test for Autoimmune Reaction to Tissue Transglutaminase

> Fecal Antitissue Transglutaminase IgA 7 Units (Normal <10 Units)

>

> Stool Test for Small Intestinal Malabsorption

> Microscopic Fecal Fat Score: 332 Units (Normal < 300 Units)

>

> Stool Test for Milk Sensitivity

> Fecal anti-casein IgA antibody 6 Units (Negative <10 Units)

>

> Gene Test for Gluten Sensitivity

> Molecular analysis: HLA-DQB1*0201, 0302

>

> Serologic equivalent: HLA-DQ 2,3 (Subtype 2,8)

>

> Today we went back into the GI for a " follow-up " and basically the

> Doctor told us that despite these results he can not possibly have

> CD becuase the biopsy was negative. He told him that it appears he

> is gluten-sensitive and can probably tolerate gluten 1 or 2 days a

> week. Does that even make sense to anyone? One thing he said to

us

> that makes me question the biopsy he did is that CD is visable

> during the scope. I know I have read that is not true. Does

anyone

> have any advice? Should we seek a new Doctor, or do we have the

> answer we are looking for already and we should just stick to what

> we know works?

>

> Thanks to everyone on this site for your advice! It has helped

> immensly with the transition for my daughter.

>

> Jonyce

[Guest guest]

,

You are amazing, thanks for your insights! We had the blood tests

drawn at a different hopsital so I will have to get those results

and compare them. Thanks again for your advice.

Based on what you wrote, I take it that you would suggest that I get

myself and my son tested as well? I am for sure recommending that

my husband's 6 siblings and his parents all get screened.

> Where is the IgG test?

> Where is the Serum IgG test?

> > Gene Test for Gluten Sensitivity

> > Molecular analysis: HLA-DQB1*0201, 0302

> >

> > Serologic equivalent: HLA-DQ 2,3 (Subtype 2,8)

>

> HLA DQ Type is HLA DQA1*0301:DQB1*0302 (DQ8)/HLA-

DQA1*0501:DQB1*0201

> (DQ2.3) Good job on getting the typing done! Either way your

husband

> is the carrier of your childs DQ predisposition. All children you

> have will either have one or the other so all can be at risk :^(,

> But at least you know.

>

>