celiac disease of my daughter and my wife. Small bowell cancer

[Youssef]

hello

I find your Website very interesting. And I would like share my experience.

I am from Morocco, and I have a bad experience with this disease, since my wife is dead from a Small Bowel Adenocarcinoma probably due to the celiac disease.

Unfortunately, she was diagnosed celiac (biopsy done) at the age of 37 years (2012) because this disease is not very known by local doctors, and she respect the gluten free diet rigorously, but in 2015 we discover a small intestine cancer, that spread also to the liver. 

However, we try to remove this cancer by chemotherapy and surgery: small intestine surgery in June 2015(complete and successful), and liver surgery in October 2015(complete and successful) in a well-known Hospital in Paris.

Unfortunately, the cancer become recurrent and spread to the brain in December 2015, which was extremely rare in this case. Although we try multiple Radiotherapy stereotaxic (Gamma Knife) and second line chemotherapy, the cancer was out of control and she dead in April 2017.

Few days after, since my daughter (8 years) suffer some times from abdomen pain, I decide to do blood test, Transglutaminase Anti Body IgG , and the results was very positive (342U/ml) with  a deficit of IgA immunoglobulin.

The pediatric and me decided immediately to begin gluten free diet, and don’t do duodenum biopsy. In additive, we do the genetic test HLA DQ2 and DQ 8, and the DQ2 was positive.

The control of the evolution of Transglutaminase Anti Body IgG after Gluten free Diet was 174 U/ml in October 2017, and 88 U/ml in June 2018. There was no abdomen pain after.

My question:

The biopsy was it necessary?, since the symptoms disappeared after the gluten free diet, and since the family context( There is also a cousin of my wife celiac) And I read some medical publications that in the context of high IgG ( > 10) with HLA DQ 8 or DQ2 positive, it is not necessary to do biopsy.

Thanks and best regards

[GFinDC]

Hi Youssef,

Welcome to the forum!

The biopsy won't work unless she eats gluten for 2 weeks before.  So that may not be worth doing just to get a test result.  We usually suggest people don't go gluten-free until all testing is done, including the biopsy.  But doctors will sometimes tell patients to go gluten-free while waiting months for an endoscopy to be done.  Then the patients have to start eating gluten again which can be very unpleasant after being gluten-free.

Some doctors will diagnose children without the endoscopy and biopsy if the symptoms and antibody test results improve after going gluten-free.

[cyclinglady]

Welcome.  

I am so sorry for the loss of your wife.  

Since your wife had small bowel cancer and the fact that your daughter has very high antibody results and a celiac gene, I would assume that your pediatrician is correct and that your daughter has celiac disease (I am not a doctor).  New research has indicated that biopsies may not be necessary in children.  See this from Beyond Celiac a celiac disease foundation dedicated to funding celiac disease research:

https://www.beyondceliac.org/research-news/children-may-not-need-a-biopsy-for-celiac-disease-diagnosis/

Biopsies can be very important for adults because as we age, many illnesses can occur that mimic celiac disease.  Perhaps your daughter can consider a biopsy in the future (adult) to insure that healing has occurred (besides antibody testing levels decreasing) and look for cancer, if symptoms warrant it.   

Unless your daughter does not believe that she has celiac disease and refuses to adhere to the diet, I would not do the biopsy.  Instead focus on really being gluten free and getting those blood tests to normalize. Have her consume real food and not gluten-free processed junk food like cakes and cookies which should not be the main staple of her diet (or anyone’s diet).  

My daughter has been tested twice (she is a university student).  She knows her risk of developing celiac disease is high.  We take comfort in the fact that she knows that she can develop celiac disease at anytime and she can address it before long term damage.  Damage that I sustained, like osteoporosis,  before I was diagnosed.  

My husband went gluten free some 12 years prior to my diagnosis.  He did it based on the advice of two medical doctors and before celiac disease was really known in the US.  The diet worked.  Did he ever get tested?  No.  A gluten challenge can be very difficult.  We could not afford for him to become sick in order to get a firm diagnosis.   As a result he has faithfully maintained a gluten-free diet for 20 years.    More shocking was my diagnosis, which was confirmed via biopsy some 12 years later.  I needed a biopsy because my celiac disease test result was unusual (only DGP IgA positive).  Plus, anemia was my main symptom (no GI upset at the time) and my hemoglobin was so low to warrant an endoscopy and colonoscopy to rule out cancer as I was 50 years old.  

I hope this helps.  Please support your daughter’s diet.  Our home is gluten free.  Anyone who visits is subject to delicious gluten free food.  We stay healthy and safe.  

 

 

Edited May 23, 2020 by cyclinglady

[Youssef]

6 minutes ago, cyclinglady said:

Welcome.  

I am so sorry for the loss of your wife.  

Since your wife had small bowel cancer and the fact that your daughter has very high antibody results and a celiac gene, I would assume your daughter has celiac disease.  New research has indicated that biopsies may not be necessary in children.  See this from Beyond Celiac a celiac disease foundation dedicated to funding celiac disease research:

https://www.beyondceliac.org/research-news/children-may-not-need-a-biopsy-for-celiac-disease-diagnosis/

Biopsies can be very important for adults because as we age, many illnesses can occur that mimic celiac disease.  For example, the risk for cancer is much higher in an adult than a  child.  Perhaps your daughter   can consider a biopsy in the future (adult) to insure that healing has occurred (besides antibody testing levels decreasing) and look for cancer, if needed and if symptoms warrant it.   

Unless your daughter does not believe that she has celiac disease and refuses to adhere to the diet, I would not do the biopsy.  Instead focus on really being gluten free and getting those blood tests to normalize. Have her consume real food and not gluten-free processed junk food like cakes and cookies which should not be the main staple of her diet (or anyone’s diet).  

My daughter has been tested twice (she is a university student).  She knows her risk of developing celiac disease is high.  We take comfort in the fact that she knows that she can develop celiac disease at anytime and she can address it before long term damage.  Damage that I sustained, like osteoporosis,  before I was diagnosed.  

My husband went gluten free some 12 years prior to my diagnosis.  He did it based on the advice of two medical doctors and before celiac disease was really known in the US.  The diet worked.  Did he ever get tested?  No.  A gluten challenge can be very difficult.  We could not afford for him to become sick in order to get a firm diagnosis.   As a result he has faithfully maintained a gluten-free diet for 20 years.    More shocking was my diagnosis, which was confirmed via biopsy some 12 years later.  I needed a biopsy because my celiac disease test result was unusual (only DGP IgA positive).  Plus, anemia was my main symptom (no GI upset at the time) and my hemoglobin was so low to warrant an endoscopy and colonoscopy to rule out cancer as I was 50 years old.  

I hope this helps.  Please support your daughter’s diet.  Our home is gluten free.  Anyone who visits is subject to delicious gluten free food.  We stay healthy and safe.  

 

 

Thank you very much for the precious information.

Fortunately, my daughter respect rigorously the gluten free diet, and I think that she is aware that this disease was probably the cause of the death of her mother.

And, before diagnosis of celiac disease, my wife had also for many years anemia, and continuously very low hemoglobin rate (8 gram/liter), but No doctor suspect Celiac disease until 2012….

[Youssef]

1 hour ago, GFinDC said:

Hi Youssef,

Welcome to the forum!

The biopsy won't work unless she eats gluten for 2 weeks before.  So that may not be worth doing just to get a test result.  We usually suggest people don't go gluten-free until all testing is done, including the biopsy.  But doctors will sometimes tell patients to go gluten-free while waiting months for an endoscopy to be done.  Then the patients have to start eating gluten again which can be very unpleasant after being gluten-free.

Some doctors will diagnose children without the endoscopy and biopsy if the symptoms and antibody test results improve after going gluten-free.

Thank you very much for your answer

[cyclinglady]

11 minutes ago, Youssef said:

Thank you very much for the precious information.

Fortunately, my daughter respect rigorously the gluten free diet, and I think that she is aware that this disease was probably the cause of the death of her mother.

And, before diagnosis of celiac disease, my wife had also for many years anemia, and continuously very low hemoglobin rate (8 gram/liter), but No doctor suspect Celiac disease until 2012….

I am so sorry.  My doctors always blamed my life-long anemia on 1) menstrual cycles (iron-deficiency anemia) and 2) a genetic anemia called Thalassemia.  I was so fortunate to have insisted on a cancer screening colonoscopy when I reached 50 years.   My consulting GI took one look at my chart (history) and recommended a celiac disease blood panel.  If positive, he would also order an endoscopy.  This occurred in 2013.  

Awareness is so critical!  

Please know that two years ago, I had a repeat endoscopy.  I had healed, but like my daughter, your daughter needs to be aware that she can develop additional autoimmune disorder at anytime in her life.  Do not let her get boxed into a single diagnosis.  My new doctors are always keeping an eye out for me.  I receive excellent annual follow-up care as recommended by celiac disease centers.  

I wish your daughter a healthy and happy life.  

 

[Youssef]

25 minutes ago, cyclinglady said:

I am so sorry.  My doctors always blamed my life-long anemia on 1) menstrual cycles (iron-deficiency anemia) and 2) a genetic anemia called Thalassemia.  I was so fortunate to have insisted on a cancer screening colonoscopy when I reached 50 years.   My consulting GI took one look at my chart (history) and recommended a celiac disease blood panel.  If positive, he would also order an endoscopy.  This occurred in 2013.  

Awareness is so critical!  

Please know that two years ago, I had a repeat endoscopy.  I had healed, but like my daughter, your daughter needs to be aware that she can develop additional autoimmune disorder at anytime in her life.  Do not let her get boxed into a single diagnosis.  My new doctors are always keeping an eye out for me.  I receive excellent annual follow-up care as recommended by celiac disease centers.  

I wish your daughter a healthy and happy life.  

 

Yes Awarness is Capital, now I am folowing her closely, I already check Tyroid (TSH and T4), and all IgA, IgE, IgM...., 

Also I wish you and your family a happy life

[MisterSeth]

all of my deficiencys were sub-clinical but I really suspect my childhood asthma and my severe dust allergy are direct results of untreated celiac. I also had "itchy ears" my whole life until i cut gluten. the symptoms are diverse

[cyclinglady]

5 hours ago, Youssef said:

Yes Awarness is Capital, now I am folowing her closely, I already check Tyroid (TSH and T4), and all IgA, IgE, IgM...., 

Also I wish you and your family a happy life

Her thyroid maybe functioning now (and those tests capture functionality) but not autoimmune.  There are a few thyroid antibodies tests that can be ordered if symptoms arise.  For example, my doctor 20+ years ago, felt my thyroid which turned out to be enlarged.  Yes, he was old school and felt my neck.   He also felt nodules.  My lab tests were normal except for my thyroid antibodies were extremely elevated.  I did not have any classic hypothyroidism symptoms at the time.  My doctor thought a small amount of thyroid replacement would help lower my antibodies.  It did help, but not much.  My thyroid continue to slowly cease functioning.  Too bad he did not suspect or know about celiac disease.  When I  went gluten free, my thyroid enlargement and my nodules disappeared almost 20 years later.   Unfortunately, my thyroid was too damaged to function well and I must take thyroid hormone replacement for the rest of my life.  Just something to keep in mind for the future.  

I learned that all autoimmune is somehow linked.  My quest is to calm my immune system and my healthy gluten free diet definitely helps.  Not sure if it is the gluten, eating real food or putting my celiac disease into remission that has calmed down my other autoimmune disorders.  

What a wonderful father you are!  Researching and being proactive  is your best defense towards maintaining health for you and your daughter.   If you have other questions, just ask. 

[RMJ]

I am so sorry to hear about your wife.  I am glad you thought to have your daughter tested.

Here is some official European guidance on diagnosing children.  

http://www.espghan.org/fileadmin/user_upload/guidelines_pdf/Guidelines_2404/European_Society_for_Pediatric_Gastroenterology_.28.pdf

Your daughter basically meets the criteria for diagnosis without a biopsy, see section “In which patients can the diagnosis of celiac disease be made without duodenal biopsies.”  Very high first test >10X normal, additional positive testing confirms it, plus genetic testing.

I hope your daughter thrives on the gluten free diet. It took several years for my antibody levels to drop to a normal range.

[Youssef]

6 hours ago, RMJ said:

I am so sorry to hear about your wife.  I am glad you thought to have your daughter tested.

Here is some official European guidance on diagnosing children.  

http://www.espghan.org/fileadmin/user_upload/guidelines_pdf/Guidelines_2404/European_Society_for_Pediatric_Gastroenterology_.28.pdf

Your daughter basically meets the criteria for diagnosis without a biopsy, see section “In which patients can the diagnosis of celiac disease be made without duodenal biopsies.”  Very high first test >10X normal, additional positive testing confirms it, plus genetic testing.

I hope your daughter thrives on the gluten free diet. It took several years for my antibody levels to drop to a normal range.

Thank you very much for your answer . In my case I check only tissue Transglutaminses (high than 10× normal) and HLA DQ2 positive.

According to a European Guidance (algorithm page 153) I need also to check EMA Antibody.  Now i think not possible,  the diet is already applied .

 

Best regards

[RMJ]

The EMA usually looks for the Transglutaminase IgA antibody, which in your daughter’s case isn’t applicable due to her IgA deficit.  With the antibody levels going down and symptoms resolving on the diet, I think you can be pretty sure she has celiac disease without need for a gluten challenge and biopsy.

[Youssef]

Ok. Thanks for the precision.  But it not clear for me the difference between EMA Antibody and Tissue Transglutaminase antibody.

 

Best regards

[zenith12]

On 5/23/2020 at 7:36 AM, Youssef said:

hello

I find your Website very interesting. And I would like share my experience.

I am from Morocco, and I have a bad experience with this disease, since my wife is dead from a Small Bowel Adenocarcinoma probably due to the celiac disease.

Unfortunately, she was diagnosed celiac (biopsy done) at the age of 37 years (2012) because this disease is not very known by local doctors, and she respect the gluten free diet rigorously, but in 2015 we discover a small intestine cancer, that spread also to the liver. 

However, we try to remove this cancer by chemotherapy and surgery: small intestine surgery in June 2015(complete and successful), and liver surgery in October 2015(complete and successful) in a well-known Hospital in Paris.

Unfortunately, the cancer become recurrent and spread to the brain in December 2015, which was extremely rare in this case. Although we try multiple Radiotherapy stereotaxic (Gamma Knife) and second line chemotherapy, the cancer was out of control and she dead in April 2017.

Few days after, since my daughter (8 years) suffer some times from abdomen pain, I decide to do blood test, Transglutaminase Anti Body IgG , and the results was very positive (342U/ml) with  a deficit of IgA immunoglobulin.

The pediatric and me decided immediately to begin gluten free diet, and don’t do duodenum biopsy. In additive, we do the genetic test HLA DQ2 and DQ 8, and the DQ2 was positive.

The control of the evolution of Transglutaminase Anti Body IgG after Gluten free Diet was 174 U/ml in October 2017, and 88 U/ml in June 2018. There was no abdomen pain after.

My question:

The biopsy was it necessary?, since the symptoms disappeared after the gluten free diet, and since the family context( There is also a cousin of my wife celiac) And I read some medical publications that in the context of high IgG ( > 10) with HLA DQ 8 or DQ2 positive, it is not necessary to do biopsy.

Thanks and best regards

Wow I am sorry for your loss. Do you think colon cancers are common with celiacs? I have no idea if i have damage or not. I hope cancer isn't more likely in celiacs. I have never been to a mainstream doc just the N D  basically diagnosed me.

[Youssef]

Just now, zenith12 said:

Wow I am sorry for your loss. Do you think colon cancers are common with celiacs? I have no idea if i have damage or not. I hope cancer isn't more likely in celiacs. I have never been to a mainstream doc just the N D  basically diagnosed me.

Not colon but small intestine. However it is uncommon, it can happen. 

[RMJ]

1 hour ago, Youssef said:

Ok. Thanks for the precision.  But it not clear for me the difference between EMA Antibody and Tissue Transglutaminase antibody.

 

Best regards

The EMA and TTG IgA test look at the same IgA antibody, but the test is run quite differently.  Both take blood samples, but the EMA test is read by having someone look under a microscope.  I’ll see if I can find an explanation - I know the difference but being able to explain it is different than knowing it!

[zenith12]

13 minutes ago, Youssef said:

Not colon but small intestine. However it is uncommon, it can happen. 

Wow thanks. Sometimes i get paranoid because you know sometimes we get pains here and there, at the side or in the middle. For the past few days no pain. But I think my pains are from IBS. My colon trying to be active.

[RMJ]

EMA stands for endomysial antibodies.  To run the EMA test, microscope slides have a thin slice of tissue put on them that includes a type of tissue called endomysium.  Dilutions of the blood sample are added.  If the person has celiac disease, their antibodies bind to the endomysium. Several other steps are performed to allow the antibodies to be visualized, after which microscope slide is evaluated by a trained analyst who knows what to look for.  If antibodies bind even with high dilutions of the blood sample, the person has celiac disease.

In 1997 a researcher figured out that the specific protein in the endomysium that the antibodies actually bind to is Tissue Transglutaminase.  This led to development of a simpler blood test which doesn’t involve a human viewing and evaluating a microscope slide.

I hope this helps, I’m not sure how much detail you’d like. I’m a scientist, I can describe in more detail but probably shouldn’t!

[RMJ]

On 5/24/2020 at 11:01 AM, RMJ said:

EMA stands for endomysial antibodies.  

Oops, that should be endomysial antigen.