Help me read these results for my 2yr old

[MomOfFive]

 

Hi! I have a 2.5 year old who is struggling to gain weight and frequent, loose stools. We went to a specialist and he was tested for celiac disease. His IGG number came back too high so the nurse said the doctor would like to do an endoscopy in a couple of weeks. Would this be the appropriate next step? Is my sons IGG level really high or just slightly? Are the other numbers in the normal range? Should I also request a genetic marker test for celiac? Here are his results below. 

 

Serologic evidence for celiac disease is present. tTg may normalize in individuals with celiac disease who maintain a gluten free diet. If high suspicion of celiac disease, consider HLA DQ2 and DQ8 testing to rule out celiac disease.

Tissue Transglutaminase Ab, IGA- Quest

Value <1.0

<15.0   Antibody not detected

> or = 15.0   Antibody detected

---------

Gliadin (Deamidated) Ab (IGA) - Quest

Value <1.0

<15.0   Antibody not detected

> or = 15.0   Antibody detected

---------

Gliadin (Deamidated) Ab (IGG) - Quest

Value 23.0

<15.0   Antibody not detected

> or = 15.0   Antibody detected

 

 

[trents]

Welcome to the forum, MomOfFive!

The most common celiac antibody test run is the first one in your list (tTG-IGA). However, young children, because their immune systems are immature, so will often not throw a positive for this one even when they have celiac disease. This why the physician ordered other antibody tests and you are blessed that you have a doctor who knew enough to do this. It is also common for young children who do throw positives for one or more of the celiac antibody tests to be negative for the biopsy, i.e., show no damage to the small bowel villi, even when they have positive antibody tests and have symptoms of celiac disease. Their little bodies are so resilient. Even so, the scoping with biopsy is the next logical diagnostic step from a clinician's standpoint.

Having said that, you also have the option of forgoing the endoscopy/biopsy and just trialing a gluten free diet. If symptoms improve within a few weeks, you likely have your answer. It would also be smart to order the gene tests mentioned in the report. The gene test does not establish the presence of active celiac disease but does establish the potential for it. If your son has one or both of the genes, celiac symptoms and a positive antibody test, then everything points to celiac disease. Note: About 40% of the general population has one or both celiac genes but only about 1-2% of the general population develop active celiac disease. If it turns out that your son does have celiac disease then both parents and all siblings should be tested, even if there are no symptoms. Recent studies show that almost half of the first degree relatives of those with active celiac disease will have or will develop celiac disease themselves. So when a close relative has active celiac disease, the odds go way up. Note also that half of those first degree relatives diagnosed with celiac disease had no symptoms. They were "silent" celiacs. For many celiacs, symptoms do not appear until there is serious damage to the small bowel villi and that can take years. It's best to catch it early.

Concerning antibody testing, here is a primer: https://celiac.org/about-celiac-disease/screening-and-diagnosis/screening/

Edited December 22, 2022 by trents

[MomOfFive]

On 12/22/2022 at 8:58 AM, trents said:

Welcome to the forum, MomOfFive!

The most common celiac antibody test run is the first one in your list (tTG-IGA). However, young children, because their immune systems are immature, so will often not throw a positive for this one even when they have celiac disease. This why the physician ordered other antibody tests and you are blessed that you have a doctor who knew enough to do this. It is also common for young children who do throw positives for one or more of the celiac antibody tests to be negative for the biopsy, i.e., show no damage to the small bowel villi, even when they have positive antibody tests and have symptoms of celiac disease. Their little bodies are so resilient. Even so, the scoping with biopsy is the next logical diagnostic step from a clinician's standpoint.

Having said that, you also have the option of forgoing the endoscopy/biopsy and just trialing a gluten free diet. If symptoms improve within a few weeks, you likely have your answer. It would also be smart to order the gene tests mentioned in the report. The gene test does not establish the presence of active celiac disease but does establish the potential for it. If your son has one or both of the genes, celiac symptoms and a positive antibody test, then everything points to celiac disease. Note: About 40% of the general population has one or both celiac genes but only about 1-2% of the general population develop active celiac disease. If it turns out that your son does have celiac disease then both parents and all siblings should be tested, even if there are no symptoms. Recent studies show that almost half of the first degree relatives of those with active celiac disease will have or will develop celiac disease themselves. So when a close relative has active celiac disease, the odds go way up. Note also that half of those first degree relatives diagnosed with celiac disease had no symptoms. They were "silent" celiacs. For many celiacs, symptoms do not appear until there is serious damage to the small bowel villi and that can take years. It's best to catch it early.

Concerning antibody testing, here is a primer: https://celiac.org/about-celiac-disease/screening-and-diagnosis/screening/

Thank you so much for your response. This is all so helpful. We have decided to go ahead with the endoscopy, and it is scheduled shortly after the new year. We are also planning on doing the genetic testing for him. 
Now that I have all this knowledge I am wondering about my other kids. I have one who frequently complains of stomach pain after he eats and he has dropped quite a bit in his growth curve in the last year. 

[trents]

Like I said, when a first degree relative has been confirmed to have celiac disease the odds go way up for the other family members to have or to eventually develop celiac disease.

Your doctor may not be aware of this, however, so he/she may balk at testing other family members unless they have classic symptoms. Third party celiac home test kits are also available from several companies. Imaware is a popular one. The home test kit sells for about $100 US. I would certainly have the other child who is having classic symptoms (stomach pain and slow growth.

Edited December 25, 2022 by trents

[DebJ14]

Thankfully, when I was diagnosed our doctor, who specializes in Celiad Disease, insisted that my first degree relatives get tested.  My 82 year old father came back positive, which explained his lifetime struggle with a duodenal ulcer, according to my doctor. 

When our oledst son came back positive the doctor insisted that we address his children, who were 2.5 years and 7 months at that time.  The doctor did not want to put the kids through the trauma of an endoscopy when the blood results were very positive.  It was bad enough with the blood draw.  He insisted both parents and the children have genetic testing.  Our son came back with HLA DQ 2 and DQ8, and his wife, who insisted she had no issues, also came back positive for both HLA DQ2 and DQ8.  Once the doctor saw that he said there was no way the kids escaped getting the genes.  Genetic testing showed BOTH kids had both of the Celiac genes.  Our daughter in law's endoscopy showed massive damage!  Suddenly, all the issues attributed to other things, cleared up.  She stopped getting migraines, rashes, constipation and ulcers in her mouth.

I was positive for DQ 2 and DQ3, so the DQ8 had to come from my husband, another one in denial. The doctor gave him a lesson in genetics that he apparently failed to grasp in college biology!   After bloodwork, genetic testing and endoscopy he too was found to have Celiac disease.  He had a hard time parting with the food in the pantry declaring that it was his hard earned money that bought it.  Our household and that of our son and his family have been totally gluten free since 2007.  In 2011 I went grain free, which improved my life even more.  In 2018, on the advice of my husband's cardiologist, hubby was also taken off dairy, and would have been taken off gluten if he had not already been gluten-free.  The cardiologist put us on keto.   That got rid of the inflammatory vegetable oils, sugar, and grains for my husband etc..  I was already dairy free due to an allergy to casein.  That was the last piece in the puzzle for my husband.  All his inflammatory markers went down and he stopped having any AFib attacks.  Cutting out gluten is only the first step in a long journey back to health.  Also, nutritional testing is critical.  The list of nutrients we were lacking was pages long.  We needed targeted supplements to completely regain our health.

Our oldest grandchild at 2.5 years only weighed 19 pounds and was off the bottom of the height chart when all this testing was going on.  He weighed 5 pounds at full term.  My celiac son was the same way as a baby/toddler.  He weighed 5 pounds 6 ounces at 3 weeks past due.   The doctor immediately put both grandkids on a gluten free diet.  The oldest gained 6 pounds and grew an inch in the first month!  They are now 18 and 16 and know that if they don't stay gluten free there are serious consequences including migraines, vomiting, diarrhea and for the younger one he gets horrible acne if he cheats.  It is like a built in lie detector! 

Sadly, my son was 28 when diagnosed so a lifetime of diarrhea and poor growth left him shorter than anyone in our families.  His oldest son is also shorter than most, but taller than his father since he was diagnosed early and got back on track, but he did lose the opportunity for growth before birth due to having an undiagnosed celiac as a mother, and he missed out on 2.5 year of normal growth.  He is always in the front row in school pictures and barely weighs 100 at 18.  The younger grandson, who went gluten-free at 7 months is right in the middle of normal for both height and weight for his age.  Sadly, he towers over his father and brother.

You mention worrying about your other kids.  What about you and your husband/kids father?  It is genetic, so if he indeed has celiac then either one or both of you are the culprits.  Can't believe the doctor didn't discuss this with you!

 

[MomOfFive]

On 12/26/2022 at 3:17 PM, DebJ14 said:

Thankfully, when I was diagnosed our doctor, who specializes in Celiad Disease, insisted that my first degree relatives get tested.  My 82 year old father came back positive, which explained his lifetime struggle with a duodenal ulcer, according to my doctor. 

When our oledst son came back positive the doctor insisted that we address his children, who were 2.5 years and 7 months at that time.  The doctor did not want to put the kids through the trauma of an endoscopy when the blood results were very positive.  It was bad enough with the blood draw.  He insisted both parents and the children have genetic testing.  Our son came back with HLA DQ 2 and DQ8, and his wife, who insisted she had no issues, also came back positive for both HLA DQ2 and DQ8.  Once the doctor saw that he said there was no way the kids escaped getting the genes.  Genetic testing showed BOTH kids had both of the Celiac genes.  Our daughter in law's endoscopy showed massive damage!  Suddenly, all the issues attributed to other things, cleared up.  She stopped getting migraines, rashes, constipation and ulcers in her mouth.

I was positive for DQ 2 and DQ3, so the DQ8 had to come from my husband, another one in denial. The doctor gave him a lesson in genetics that he apparently failed to grasp in college biology!   After bloodwork, genetic testing and endoscopy he too was found to have Celiac disease.  He had a hard time parting with the food in the pantry declaring that it was his hard earned money that bought it.  Our household and that of our son and his family have been totally gluten free since 2007.  In 2011 I went grain free, which improved my life even more.  In 2018, on the advice of my husband's cardiologist, hubby was also taken off dairy, and would have been taken off gluten if he had not already been gluten-free.  The cardiologist put us on keto.   That got rid of the inflammatory vegetable oils, sugar, and grains for my husband etc..  I was already dairy free due to an allergy to casein.  That was the last piece in the puzzle for my husband.  All his inflammatory markers went down and he stopped having any AFib attacks.  Cutting out gluten is only the first step in a long journey back to health.  Also, nutritional testing is critical.  The list of nutrients we were lacking was pages long.  We needed targeted supplements to completely regain our health.

Our oldest grandchild at 2.5 years only weighed 19 pounds and was off the bottom of the height chart when all this testing was going on.  He weighed 5 pounds at full term.  My celiac son was the same way as a baby/toddler.  He weighed 5 pounds 6 ounces at 3 weeks past due.   The doctor immediately put both grandkids on a gluten free diet.  The oldest gained 6 pounds and grew an inch in the first month!  They are now 18 and 16 and know that if they don't stay gluten free there are serious consequences including migraines, vomiting, diarrhea and for the younger one he gets horrible acne if he cheats.  It is like a built in lie detector! 

Sadly, my son was 28 when diagnosed so a lifetime of diarrhea and poor growth left him shorter than anyone in our families.  His oldest son is also shorter than most, but taller than his father since he was diagnosed early and got back on track, but he did lose the opportunity for growth before birth due to having an undiagnosed celiac as a mother, and he missed out on 2.5 year of normal growth.  He is always in the front row in school pictures and barely weighs 100 at 18.  The younger grandson, who went gluten-free at 7 months is right in the middle of normal for both height and weight for his age.  Sadly, he towers over his father and brother.

You mention worrying about your other kids.  What about you and your husband/kids father?  It is genetic, so if he indeed has celiac then either one or both of you are the culprits.  Can't believe the doctor didn't discuss this with you!

 

I haven’t even talked to him since I got the blood work results. His nurse called me to explain what the doctor would like to do next and I agreed (after doing some of my own research). I have a whole list of questions that I will ask him next Monday. I am feeling so overwhelmed. It feels like the veil has been lifted and this is just a whole new world to me.

I have an 8 year old son who is very small for his age. His 5 year old sister is starting to catch up to him. He is very muscular and athletic, but still doesn’t weigh much. he always trended in the 30th percentile in height and weight, but at his 7 year checkup he dropped to the 15th percentile. He also complains of stomach pain and feeling nauseous after he eats, but it didn’t really sounds any alarms until recently. Now I’m wondering. This will definitely be my next step regardless of whether the endoscopy comes back positive or not for my younger son. 
 

I appreciate your response so much! I feel empowered by everyone’s validation and advice.