Advice please on celiac disease / diagnosis / biopsy

[Carla1234]

Good afternoon, Im posting for some advice on my DD.

After experiencing occassional loose stalls / tummy ache, a blood test was taken back in August for celiac, which was positive. However it was a long 4 month wait for the biopsy . .

DD had the biopsy last week; all went well and the consultant could not see any signs of damage etc, so he took another blood test as well as samples of tissue so that he could be sure the first blood test was not wrong.

Fast forward to today . . had a call from consultant saying that second test was positive (he is waiting for another test but that will take a couple more weeks). The biopsy itself shows minor changes to the intestines. Very minor, and certainly not enough for an official diagnosis but probably the early early signs of celiac disease.

So we now have a dilemma, which the consultant himself agreed. They cannot diagnose celiac on her results as the damage is so minimal. What we are likely seeing is extremely early signs of celiac. On one hand this is good as she has no damage which needs reversing . . on the other hand no official diagnosis.

Her consultant said that because the GF diet is lifelong, he is wary about diagnosing on blood tests alone. For that reason he recommends another biopsy in 6 months time, although he admitted it would be hard to continue with the gluten challenge if symptoms return.

I have cut her gluten by approx 95% since biopsy, and the thought of having to put her back on it for six months feels horrendous. Consultant is recommending 3 times a day (!!!!) if we can manage it, so he can hopefully get an accurate diagnosis next time.

She has a major gymnastics show this week and next, and DF and i are of the agreement that we wont start the gluten challenge until the show is over (DF says wait until after xmas but im not sure if thats too long?)

I honestly think that a diagnosis today would have been easier to deal with. These last four months have been horrible, with DD having stomach issues/loose bowels etc and I dont want her feeling ill for another six months.

Consultant said to contact him if she gets too poorly to continue and we'll have to assess at that stage, although he really wants to push for biopsy.

I wondered if anyone had experienced an inconclusive result themselves?

Carla x

Hi, I've no experience of an inconclusive result, but I think there are now new protocols governing diagnosis of coeliac in children which means they often now diagnose on the basis of a conclusive blood test result. If you've seen dramatic results on removing gluten from your DD's diet, then I would be tempted to push back to the consultant. If you want more information on diagnosis on the basis of blood test alone, Coeliac UK might be able to help.

Hi thanks for replying

I've heard of this too; however our consultant seems reluctant to diagnose without biopsy as he says the gluten free diet is "so serious and challenging" that he wants to be sure!

My friend suggested I try and get another opinion. I'm just worried about pushing & pushing and ending up with a diagnosis of celiac disease when it may not be that (small though the chances probably are).

It's all so confusing and very stressful

google and read the NICE guidelines regarding coeliac and diagnosis. How old is your daughter as there are special exceptions for children, I thought they didn't have to have the biopsy. Everything will be explained on the NICE guidelines.

as for a gluten free diet being "difficult and challenging" well I am frankly amazed and would totally disagree with that comment. My test came back negative, but I felt so awful I decided to go GF anyway I didn't think there was anything to lose, and I am so glad I did. after a lot of soul searching I have decided to stick with GF and not try to pursue a diagnosis, which would involve eating gluten again. I might not get a CD diagnosis anyway, so I would be right back where I am now IYSWIM.

This is the bit I was on about,
From coeliac.org.uk website, healthcare professionals section, diagnosis guidelines...

I hope this is helpful for you

Guidelines for adults
NICE released a guideline on the recognition of coeliac disease in 2009. The guideline outlines the symptoms and patients at risk of coeliac disease, as well as evidence on how to identify people with the condition.

Guidelines for children
New guidelines for children have been published by the British Society of Paediatric Gastroenterology, Hepatology and Nutrition (BSPGHAN) and Coeliac UK in February 2013.

The new short and long guidelines are based on the recent recommendations from the European Society for Paediatric Gastroentereology, Hepatology and Nutrition (ESPGHAN).

In recent years diagnosis was based on a blood test for antibodies followed by a biopsy. However, the accuracy of blood tests has improved and the need for biopsy may lead to delayed diagnosis and treatment.
The new guidelines recommend that children with symptoms and whose blood tests show a high level of IgA tissue transglutaminase antibodies (x10 x upper limit of normal for assay) and who are HLA-DQ2/ DQ8 positive do not need to undergo biopsy to secure diagnosis.

The new recommended approach will aid more accurate diagnosis, help children get treated more quickly and should bring savings to the NHS.

Guidelines in Scotland
Scotland has an equivalent to NICE called the Scottish Intercollegiate Guidelines Network (SIGN). SIGN does not endorse the work of any other guideline development agencies, including NICE. In areas where there is no SIGN guideline, NHS Scotland staff can follow any other guidelines they think meet appropriate standards.

Hi Penny

Thanks so much for your response. I'm in total agreement - although gluten free will pose social restrictions and challenges on a child/teenager, I know it is totally possible.

I'm going to call and see what the test results are for the test we are waiting on.

The longer I think about it, the more I wish we could trial gluten free for 6 months and then re-do bloods & biopsy. If the minimal changes have reversed and TTG levels lowered, wouldn't that be as much an indicator of celiac without the need to potentially damage my child's health for 6 months?

As I know a child diagnosed on blood tests alone this is very frustrating!! If the biopsy was completely negative it would be more justified, but the changes are there. Pre-celiac or full-blown celiac - the treatment is the same!

My three DDs all have coeliac disease. DD1 was diagnosed with a blood test, confirmed with a biopsy. My DTs were diagnosed just on the basis of blood tests, albeit with their sister's diagnosis in mind.

However, I can't believe that your consultant's saying the diet is "so serious and challenging" - even when DD1 was diagnosed in 2006, it wasn't that bad, but now there is so much food available in the supermarkets (although it is much more expensive than standard food) and going out is a breeze. Ask, Pizza Express, Pizza Hut, Carluccio's, Zizzi's all do gluten free pasta or pizza or both. We're going out for lunch at a carvery restaurant on Sunday - I spoke to them in advance and they're perfectly well geared up to serve a gluten free menu and understanding of this diet is so much better than it used to be. We've been on holiday to Majorca, where their labelling is even better than it is here and all restaurants understand the restrictions. Oh and pretty much all of M&S' Christmas range (pigs in blankets, stuffings etc) is gluten free, so our whole Christmas lunch is g-f with no effort at all.

There is one clear advantage to an official diagnosis - you get food on prescription, which really helps with the cost (particularly with three children on the diet!). And they have annual check ups with the paediatrician, and blood tests, checking their TTG levels, iron levels, thyroid etc.

The only problem with going gluten free without an official diagnosis is that, even if you see dramatic changes, in order to get the diagnosis, you'd have to put your DD back on gluten for a significant amount of time.

I hope you manage to get a result for your DD very soon.

Hi thanks for your message!

I totally agree- the thought of putting her back on a gluten filled diet is worse than going GF - at least GF won't harm her (and if she is definitely celiac it will make her lots better).

Just a waiting game at moment / currently mainly GF but still having odd bits, until after Xmas.

It's just so unfair - four months should have been long enough for a gluten challenge surely?! Lots of info online only states a few weeks/months

How have you got on Caria?

DS2 is in your DD's position. My eldest (DS1) was diagnosed with coeliac 2 years ago (blood tests + endoscopy showing major villi damage). A few months later, DS2 began showing the same symptoms that DS1 had done at the same age. His blood test was negative so we asked to have an endoscopy which showed very little damage - not enough for a diagnosis.

However, the paediatric gastroenterologist (who had seen DS2's belly change from flat when she first saw DS1 to very bloated a few months later) put down a diagnosis of 'probable coeliac'. We don't get prescriptions for him, but we are able to make sure that nursery/school etc. treat him as coeliac.

Since we are already g-f for DS1, it's easy to be g-f for him too. The social restrictions are not so bad, since we're already doing it.

We've agreed that when DS2 is about 7 - 8 we will do a gluten challenge and retest him. We picked that age because that's when the immune system is fully developed (before that age false negatives are more common). We also didn't want to risk him going through the same slow decline that DS1 went through as coeliac developed in him - the damage was severe (and 2 years later not fully healed).

We also had DS2 tested for the 'coeliac genes' (DQ2/DQ8) - a blood test, which his paediatrician suggested and was done on the NHS. Having the gene doesn't make you coeliac, as there is an environmental trigger as well. However NOT having the gene means you can't be coeliac. He does have it.

You could look into having the gene test for your DD?