Toddler diagnosis - concerning labs/endoscopy anxiety

[mamato2]

Hi there - 

My nearly 3 year old toddler has had concerning bowel movements, rashes, a big distended belly, and has recently stopped/plateaued growing. We had labs drawn out of general concern and he had a very high BUN, high BUN/creatinine ratio and low globulin. They are referring us to GI with suspected celiac (our primary care dr noted his labs denote someone malnourished and dehydrated, but he eats/drinks a lot and high quality foods) but I have some concerns with the diagnostic tests. 
 

First, has anyone seen their CBC/metabolic panel be off in this way pre-diagnosis? 
 

Second, has anyone been diagnosed without an endoscopy? I do NOT want him to be sedated/tubed if the treatment is to not eat gluten. For what it’s worth, I went gluten free 10+ years ago after suspected celiac but was never formally diagnosed (I would not go back on gluten). Should I pursue a diagnosis and if I did, would he need an endoscopy? 

[trents]

What led to my celiac diagnosis was CMP (Complete Metabolic Panel) values for liver enzymes being elevated persistently for several years for no apparent reason and albumin and total protein were sub normal as well. I finally went to a GI doc and he checked me for celiac right away. Both antibodies and biopsy were positive.

In some countries having an official diagnosis of celiac disease provides certain benefits, like vouchers for gluten free food products and can even qualify you for some disability support.

In the UK it is common for doctors to grant a celiac diagnosis without doing an endoscopy/biopsy if the antibody scores are 10x normal or greater.

Edited April 2, 2023 by trents

[mamato2]

13 minutes ago, trents said:

What led to my celiac diagnosis was CMP (Complete Metabolic Panel) values for liver enzymes being elevated persistently for several years for no apparent reason and albumin and total protein were sub normal as well. I finally went to a GI doc and he checked me for celiac right away. Both antibodies and biopsy were positive.

In some countries having an official diagnosis of celiac disease provides certain benefits, like vouchers for gluten free food products and can even qualify you for some disability support.

In the UK it is common for doctors to grant a celiac diagnosis without doing an endoscopy/biopsy if the antibody scores are 10x normal or greater.

So interesting. Are elevated liver enzymes a clinical sign of celiac? Our dr suggested there can be some kidney/liver implications of celiac but I’m struggling to make the connection. I’ve done some research and it looks like labs can be off because of the lack of absorption - I’m really glad you got a diagnosis and sounds like a smart physician. Hope you’re doing well. 

[trents]

Elevated liver enzymes are a recognized clinical symptom of celiac disease. Happens in about 20% of celiac cases. Most general practitioners aren't aware of that, however. To my knowledge, it is not well-understood why or what is the connection. I do not know if there is a connection between kidney function and celiac disease but it would certainly not surprise me. We are discovering more symptoms connected with celiac disease all the time. There are now about 200 symptoms that have been connected with celiac disease but many doctors are still only thinking in terms of classical GI symptoms.

Within 3 months of going gluten free my liver enzymes normalized.

Edited April 3, 2023 by trents

[Wheatwacked]

Most infant formulas do not have choline. Choline can cause liver and gall bladder problems. Choline is absorbed in the small intestine, so Celiac malabsorpsion would make low intake even worse. My son was diagnosed by biopsy back in 1976 as soon as he was weaned. Was fed Nutramagen only for about 6 months.

Oxford Academic Advances in Nutrition: Choline "Healthy humans with normal folate and vitamin B-12 status who were fed a choline-deficient diet developed fatty liver, liver damage [elevated plasma alanine (or aspartate) transaminase] or developed muscle damage (elevated creatine phosphokinase) that resolved when choline was restored to the diet"

[shadycharacter]

3 hours ago, trents said:

I do not know if there is a connection between kidney function and celiac disease but it would certainly not surprise me. We are discovering more symptoms connected with celiac disease all the time. There are now about 200 symptoms that have been connected with celiac disease but many doctors are still only thinking in terms of classical GI symptoms.

IgA nephropathy, with IgA deposits in kidneys, can be connected to celiac disease.

IgA nephropathy associated with coeliac disease

" In conclusion, there may be a small group of patients with IgAN coexisting with celiac disease in whom a gluten-free diet seems to be the treatment of choice for the resolution of kidney disease."

[RMJ]

Before even considering an endoscopy the next step would be a full panel of blood tests for celiac antibodies. TTG IgA and IgG, DGP IgA and IgG, and total IgA (a control to ensure other IgA tests are valid).  Some doctors will diagnose based on these tests alone.

[mamato2]

8 minutes ago, RMJ said:

Before even considering an endoscopy the next step would be a full panel of blood tests for celiac antibodies. TTG IgA and IgG, DGP IgA and IgG, and total IgA (a control to ensure other IgA tests are valid).  Some doctors will diagnose based on these tests alone.

We are getting these labs - just curious if anyone had seen other abnormal labs. Praying for celiac v. Kidney or liver disease for my toddler. 

[Wheatwacked]

Even if Celiac Disease is not diagnosed, before you go crazy chasing down kidney or liver disease, try the gluten free diet first. If it is gluten there will be results in a day or so. Make sure to get lots of choline (eggs are good) The RDA for 1-3 year old is 200 mg a day. One large hardboiled egg has 147 mg. Tolerable upper limit is 1000 mg. That's almost 7 eggs a day.

[Wheatwacked]

21 hours ago, mamato2 said:

I went gluten free 10+ years ago after suspected celiac but was never formally diagnosed (I would not go back on gluten).

I think this should be the choice for your child also.

[mamato2]

4 minutes ago, Wheatwacked said:

I think this should be the choice for your child also.

I’m concerned that we will not be followed/treated appropriately if we don’t have a follow up diagnosis. Also concerned that he will not take it seriously as a teenager/adult if he has not been diagnosed. Any thoughts on those concerns? If there’s nothing to actually worry about, I’m fine with just choosing to not eat gluten. I am concerned that results in us not having a very compliant child and associated implications. 

1 hour ago, Janeer said:

As a parent, I can understand your anxiety and concern regarding your toddler's diagnosis. It can be overwhelming and scary to navigate the world of celiac disease, especially when it comes to our little ones. It's important to remember that a celiac diagnosis is not the end of the world. While it may require some adjustments to your child's diet and lifestyle, it is manageable. There are plenty of delicious gluten-free options available, and with time and patience, your child will adjust to their new normal. In terms of the concerning labs and endoscopy results, it's important to discuss any questions or concerns with your child's healthcare provider. They can provide more specific information about your child's individual case and offer guidance on next steps. Remember, you are not alone in this journey. There are many resources available, including support groups and online communities, where you can connect with other parents who have gone through similar experiences. Lean on them for support and advice as you navigate this new chapter in your family's life.

Thanks so much for the kind note. Hoping this is a smooth transition if it is indeed the route we need to take. 

[trents]

12 minutes ago, mamato2 said:

I’m concerned that we will not be followed/treated appropriately if we don’t have a follow up diagnosis. Also concerned that he will not take it seriously as a teenager/adult if he has not been diagnosed. Any thoughts on those concerns? If there’s nothing to actually worry about, I’m fine with just choosing to not eat gluten. I am concerned that results in us not having a very compliant child and associated implications. 

Thanks so much for the kind note. Hoping this is a smooth transition if it is indeed the route we need to take. 

This is exactly the reason we often push for a formal diagnosis. It is just human nature to rationalize it all away unless there is a concrete diagnosis. On top of that, if you factor in childhood/adolescent immaturity and social pressures, your concern is quite legitimate.

I want to emphasize the importance of what you brought up yourself about getting more thorough antibody testing. It is a well-established fact that children, because of their immature immune systems, often do not respond to antibody testing the same way that an adult celiac would. Many physicians will only order the tTG-IGA test, even for children, as they aren't aware of the immune system nuances connected with celiac disease that can result in false negatives. You should push for a "full celiac panel". Here is a primer: https://celiac.org/about-celiac-disease/screening-and-diagnosis/screening/

Endoscopies are done on peds and there are GI docs who specialize in pediatric patients. I would not rule that option out. But be aware that peds often do not show damage to the SB villi even though they test positive via antibodies. Their bodies are just so resilient that they repair themselves much better than would happen with adults. But you seem resistant to an endoscopy. Any particular reason? At least with adults this is done under conscious sedation and there is no pain involved.

[Scott Adams]

Here is some more info on the blood tests:

 

[mamato2]

1 hour ago, trents said:

This is exactly the reason we often push for a formal diagnosis. It is just human nature to rationalize it all away unless there is a concrete diagnosis. On top of that, if you factor in childhood/adolescent immaturity and social pressures, your concern is quite legitimate.

I want to emphasize the importance of what you brought up yourself about getting more thorough antibody testing. It is a well-established fact that children, because of their immature immune systems, often do not respond to antibody testing the same way that an adult celiac would. Many physicians will only order the tTG-IGA test, even for children, as they aren't aware of the immune system nuances connected with celiac disease that can result in false negatives. You should push for a "full celiac panel". Here is a primer: https://celiac.org/about-celiac-disease/screening-and-diagnosis/screening/

Endoscopies are done on peds and there are GI docs who specialize in pediatric patients. I would not rule that option out. But be aware that peds often do not show damage to the SB villi even though they test positive via antibodies. Their bodies are just so resilient that they repair themselves much better than would happen with adults. But you seem resistant to an endoscopy. Any particular reason? At least with adults this is done under conscious sedation and there is no pain involved.

My husband is a pediatric nurse and has seen some poor outcomes/complications on children that have been sedated for procedures. It’s mostly the concern that if it can be diagnosed by blood alone, why the risk of sedation (granted, im not sure whether it would be general or just concious sedation). However, I am leaning toward doing what it takes to make sure we have a formal diagnosis in his records and for the future.