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genetic test

Giga221
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Giga221 Rookie
Giga221
Posted

Hi, I still haven't had an endoscopy or a biopsy, my doctor put me on a gluten-free diet for 2 months, now he says I have to go gluten-free for 1 week and then have an endoscopy and a biopsy, please advise, I've been on a diet for so long and I don't want to waste this time.

 

HLA- DOA1*05 allele 

HLA- DOB1*02 allele

HLA- DQA1*03 allele

These mutations were discovered and because of this he put me on a diet, now he is telling me this.

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trents Grand Master
trents
Posted

Welcome to the forum community, @Giga221!

First, it needs to be said that genetic testing cannot be used to definitively diagnose celiac disease. 40% of the general population carries 1 or more genes that have been identified with the potential to develop celiac disease. Yet, only about 1% of the general population develops active celiac disease. From these statistics you can see that most who have the genetic potential to develop celiac disease never do. It takes both the genes and some kind of stress trigger to develop active celiac disease.

Second, I'm afraid your doctor is giving you very bad advice about going on a gluten free diet ahead of testing. That will invalidate the testing. If you have celiac disease, starting a gluten free diet weeks or months ahead of testing will allow healing to take place in the lining of the small bowel such that when the scoping and biopsy is done there may be no damage to see.

But I am curious. Normally, before you have a scoping with biopsy there is blood antibody testing done. That is normally the first stage of diagnosis. Has your doctor done blood testing on you for celiac disease antibodies?

Giga221 Rookie
Giga221
Posted
  • Author
1 hour ago, trents said:

Welcome to the forum community, @Giga221!

First, it needs to be said that genetic testing cannot be used to definitively diagnose celiac disease. 40% of the general population carries 1 or more genes that have been identified with the potential to develop celiac disease. Yet, only about 1% of the general population develops active celiac disease. From these statistics you can see that most who have the genetic potential to develop celiac disease never do. It takes both the genes and some kind of stress trigger to develop active celiac disease.

Second, I'm afraid your doctor is giving you very bad advice about going on a gluten free diet ahead of testing. That will invalidate the testing. If you have celiac disease, starting a gluten free diet weeks or months ahead of testing will allow healing to take place in the lining of the small bowel such that when the scoping and biopsy is done there may be no damage to see.

But I am curious. Normally, before you have a scoping with biopsy there is blood antibody testing done. That is normally the first stage of diagnosis. Has your doctor done blood testing on you for celiac disease antibodies?

Thanks for the feedback, haven't done it yet, put me on a gluten free diet and now going to have an antibody test and an endoscopy and a biopsy

trents Grand Master
trents
Posted

Both the antibody test and the biopsy will likely by compromised by starting the gluten free diet ahead of the testing. The results of the testing may not be valid because of this. Do you understand the point I am trying to make?

Giga221 Rookie
Giga221
Posted
  • Author
9 minutes ago, trents said:

Both the antibody test and the biopsy will likely by compromised by starting the gluten free diet ahead of the testing. The results of the testing may not be valid because of this. Do you understand the point I am trying to make?

Yes I understand what you mean, I have been on a gluten free diet for 2 months now and the symptoms seemed to be gone at first then they came back and I am still the same, I don't know now how valid it is to break the diet for 1 week for the transglutaminase test, endoscopy and biopsy

Scott Adams Grand Master
Scott Adams
Posted

Overall, your genetic profile suggests that you may have an increased risk of celiac disease due to the presence of the HLA-DQA103 allele, which is a known genetic risk factor. However, the absence of specific alleles (such as HLA-DQB102, a part of the HLA-DQ2 haplotype) also plays a role in determining overall disease risk. It's essential to interpret these genetic results in conjunction with clinical symptoms, family history, and other diagnostic tests for a comprehensive assessment of celiac disease risk. Be sure to ask your doctor about your genetic test results. These results alone only mean that you have a small chance of developing celiac disease--they do not mean that you actually have celiac disease.

Giga221 Rookie
Giga221
Posted
  • Author
7 minutes ago, Scott Adams said:

Overall, your genetic profile suggests that you may have an increased risk of celiac disease due to the presence of the HLA-DQA103 allele, which is a known genetic risk factor. However, the absence of specific alleles (such as HLA-DQB102, a part of the HLA-DQ2 haplotype) also plays a role in determining overall disease risk. It's essential to interpret these genetic results in conjunction with clinical symptoms, family history, and other diagnostic tests for a comprehensive assessment of celiac disease risk. Be sure to ask your doctor about your genetic test results. These results alone only mean that you have a small chance of developing celiac disease--they do not mean that you actually have celiac disease.

Thanks for the feedback and the comprehensive answer, yes it is clear, in my case, when the doctor put me on a gluten-free diet, there was no vitamin deficiency, folic acid, ferritin, electrolytes, everything was fine, but last summer I suddenly started having symptoms, diarrhea, tachycardia, bloating, weakness and fatigue Then sleepiness, a feeling of heart palpitations

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Scott Adams Grand Master
Scott Adams
Posted

Approximately 10x more people have non-celiac gluten sensitivity than have celiac disease, but there isn’t yet a test for NCGS. If your symptoms go away on a gluten-free diet it would likely signal NCGS.

If you want to be tested for celiac disease:

Here is more info about how to do a gluten challenge for a celiac disease blood panel, or for an endoscopy:

Quote

"...in order to properly diagnose celiac disease based on serology and duodenal histology, doctors need patients to be on gluten-containing diets, even if they are causing symptoms, and this is called a "gluten challenge."

  • Eat gluten prior to celiac disease blood tests: The amount and length of time can vary, but is somewhere between 2 slices of wheat bread daily for 6-8 weeks and 1/2 slice of wheat bread or 1 wheat cracker for 12 weeks 12 weeks;
  • Eat gluten prior to the endoscopic biopsy procedure: 2 slices of wheat bread daily for at least 2 weeks;

and this recent study recommends 4-6 slices of wheat bread per day:

 

 

Giga221 Rookie
Giga221
Posted
  • Author
19 minutes ago, Scott Adams said:

Approximately 10x more people have non-celiac gluten sensitivity than have celiac disease, but there isn’t yet a test for NCGS. If your symptoms go away on a gluten-free diet it would likely signal NCGS.

If you want to be tested for celiac disease:

Here is more info about how to do a gluten challenge for a celiac disease blood panel, or for an endoscopy:

and this recent study recommends 4-6 slices of wheat bread per day:

 

 

Thanks Scott!

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