Diagnosis in children

[nattaliec]

Hi. I’m new here. My daughter (4yr) has suffered with stomach cramps, diarrhoea, constipation, lethargy and irritability for at least the last year. I had put the symptoms down to an assumed lactose intolerance (both myself and my son have this) and we had started the ladder to come out of this with her. She has been dairy free for 2+yrs. however her symptoms were getting worse despite me putting her back on a completely dairy free diet so we went to the doctor and got blood tests. The results showed iron deficient anaemia, high vit b12 and her tissue transglutaminase igA was 26CU (normal range 0-19) 

 

however her endomysial igA was negative  and we have been referred to paediatrics for potential biopsy  

 

can anyone explain what having 1 positive and 1 negative result means and whether biopsy is always needed (keen to avoid invasive procedures)  

 

thanks

 

nattalie 

 

 

[trents]

1 hour ago, nattaliec said:

Hi. I’m new here. My daughter (4yr) has suffered with stomach cramps, diarrhoea, constipation, lethargy and irritability for at least the last year. I had put the symptoms down to an assumed lactose intolerance (both myself and my son have this) and we had started the ladder to come out of this with her. She has been dairy free for 2+yrs. however her symptoms were getting worse despite me putting her back on a completely dairy free diet so we went to the doctor and got blood tests. The results showed iron deficient anaemia, high vit b12 and her tissue transglutaminase igA was 26CU (normal range 0-19) 

 

however her endomysial igA was negative  and we have been referred to paediatrics for potential biopsy  

 

can anyone explain what having 1 positive and 1 negative result means and whether biopsy is always needed (keen to avoid invasive procedures)  

 

thanks

 

nattalie 

 

 

Welcome to the forum, nattalie!

Seldom do people with celiac disease test positive on all tests that can be run for detection. That is normal. Some tests are more specific for celiac disease than others and some are more sensitive than others. Also, with young children whose immune systems are immature you often get additional testing irregularities. There are a number of tests that can be run to detect celiac disease. The tTG-IGA is the most common one ordered by physicians because it combines good specificity with good sensitivity and is inexpensive to run in the analysis lab. Here is a primer for celiac disease antibody testing: https://celiac.org/about-celiac-disease/screening-and-diagnosis/screening/

In Europe, doctors will often forego the endoscopy/biopsy and declare a celiac disease diagnosis if tTG-IGA scores are 10x normal but your daughter's score is not nearly that high. The other option would be to put her on a strict gluten free diet and see if symptoms improve. If they do, she either has celiac disease or NCGS (Non Celiac Gluten Sensitivity).

[cristiana]

Hi Nattalie

If you are from the UK, it is worth bearing in mind that there are significant advantages in obtaining an official diagnosis of coeliac disease. Some people will just go gluten free without finding out for sure one way or another - I know two people who have done just that - but if it does turn out your child is coeliac, the NHS offers the following important surveillance (see lower section on children).

https://www.coeliac.org.uk/information-and-support/coeliac-disease/once-diagnosed/check-ups-and-vaccinations/ 

Incidentally, I was told when I was diagnosed ten years ago that if my children tested positive in a blood test, they would not have to have a test.  I never asked why but imagine that is because this Coeliac disease is inherited.  If you know of any other sufferers in the family that might be worth mentioning to your paediatrician.

Cristiana