Frustration of no clear diagnosis after months

[Sterling]

I am now six months into test. Here is the position so far:

Mild anaemia otherwise asymptomatic / Ttg IgA positive 27.5 U/ml (range 0.6 to 6.9), positive again on recent re-test / Endomysial antibody IgA level: not detected / Genetic tests: positive / Endoscopy with six biopsies all negative / Colonoscopy: no concerns. Gastroenterologist  suggested results not clear line but most probably non-coeliac. 

I met a specialist coeliac consultant today who has called for all blood tests again and indicates that a further endoscopy may be required looking deeper into the intestine. This consultant stated that I am definitely on the "coeliac spectrum".   

Please, does this fit anyone else's pattern?

[Celiac Nutritionist]

Do you have a copy of your pathology biopsy report?        

Yes?   What exactly does it state?     (ie: does it have any atrophy or duodenitis stated on the report?)

No? - Ask your doctor for a copy.

Is the pathologist unfamiliar with Celiac Disease? (this could potentially effect the results).

[Sterling]

On 09/01/2016 at 6:23 AM, Celiac Nutritionist said:

Do you have a copy of your pathology biopsy report?        

Yes?   What exactly does it state?     (ie: does it have any atrophy or duodenitis stated on the report?)

No? - Ask your doctor for a copy.

Is the pathologist unfamiliar with Celiac Disease? (this could potentially effect the results).

Thank you, Celiac Nutritionist, for taking you time to respond to my posting.

The gastroscopy indicates duodenum normal. Two biopsies taken at the "bulb" and four biopsies taken at the "second part". I do not have the pathology report. But I was told that the biopsies were normal.

The gastrologist has passed me over to a coeliac consultant. The immediate view is that I am unquestionably on the "coceliac spectrum". Now all blood tests have been re-ordered and a deeper endoscopy may be required.

So even after 12 months of investigation, I am being instructed to continue of consume gluten until investigations are complete. At some point I may just decide to go on the coeliac diet.

Kind regards, Sterling

 

  

 

  

[Celiac Nutritionist]

Hi, Sterling.

 

If it's possible - try and find out through your reports if there is ANY percentage of villi atrophy.    Glad you are seeing a gluten consultant, is it at one of the celiac centres?

[Sterling]

On 12/01/2016 at 6:04 AM, Celiac Nutritionist said:

nd find out through your reports if there is ANY percentage of villi atrophy.    Glad you are seeing a glute

I have recently been treated privately but my case has been referred to specialists within the English National Health Service (NHS). It is very difficult to get detailed results sheets when under NHS care. When you pay you can get what you ask for.

However, today they confirm a diagnosis of Coeliac Disease notwithstanding normal biopsies. However, they want me to follow a harsher gluten diet for 6 to 8 weeks and then have an enteroscopy investigation with jejunal biopsies. They  expect that they would confirm coeliac disease with the biopsies deeper into the  intestine.

They surprisingly seem to be very intent upon finding positive biopsies.

 

 

 

[squirmingitch]

So you're saying they say you do have celiac disease based on the positive blood work twice now. I understand they say the biopsies are negative. And you're saying they want you to eat even greater quantities of gluten for 6-8 weeks & then repeat the endoscopy with biopsies but they want to go deeper in the intestine.

Assuming I have everything right there then they must be trying to go on the "old standard" of the "gold standard" for diagnosis is positive biopsies. Am I right?

I know you hate eating more gluten for longer yet but if that's what it takes for the NHS then I guess that's what it takes. I'm so sorry they are putting you through this. You're so close at this point I would hate to see you back off now. It certainly sounds like they're trying.

[Sterling]

12 hours ago, squirmingitch said:

So you're saying they say you do have celiac disease based on the positive blood work twice now. I understand they say the biopsies are negative. And you're saying they want you to eat even greater quantities of gluten for 6-8 weeks & then repeat the endoscopy with biopsies but they want to go deeper in the intestine.

Assuming I have everything right there then they must be trying to go on the "old standard" of the "gold standard" for diagnosis is positive biopsies. Am I right?

I know you hate eating more gluten for longer yet but if that's what it takes for the NHS then I guess that's what it takes. I'm so sorry they are putting you through this. You're so close at this point I would hate to see you back off now. It certainly sounds like they're trying.

Thank you, squirmingitch

This is pretty much where I stand after a great many investigations except that I have had the endoscopy and the colonsocopy and it is an enteroscopy that is proposed. The celiac experts are absolutely certain that I have celiac disease based upon now two repeats of a wide variety of blood tests despite the normal  biopsies. So the "gold standard" is not so gold.  They want jejunal biopsies.

[squirmingitch]

Thank you for clarifying that. Well. My goodness. I can only give you my opinion - you have to make your own decision. 

SINCE the celiac experts are absolutely certain you have celiac disease then you could propose to them that you don't want to eat gluten any longer just to satisfy their desire to poke around inside you any more. You can tell them that you are going gluten free right now & instead of jejunal biopsies they can judge on your response to the gluten free diet. They are already convinced of your dx so screw them. Personally, I wouldn't be their guinea pig any longer. 

[Sterling]

1 hour ago, squirmingitch said:

Thank you for clarifying that. Well. My goodness. I can only give you my opinion - you have to make your own decision. 

SINCE the celiac experts are absolutely certain you have celiac disease then you could propose to them that you don't want to eat gluten any longer just to satisfy their desire to poke around inside you any more. You can tell them that you are going gluten free right now & instead of jejunal biopsies they can judge on your response to the gluten free diet. They are already convinced of your dx so screw them. Personally, I wouldn't be their guinea pig any longer. 

I think, squirmingitch, that you well understand my frustration.

The overseeing consultant at the university hospital that I am attending is a leading celiac researcher so the approach in my instance may well be non-standard. I have considered just calling it a day and moving onto the non-gluten diet, but this is tempered by my concern that I should know if there are smaller intestine changes. I keep thinking that I am coming to the end of the tests.    

[squirmingitch]

Ahhhhhhhh, I begin to see more clearly now. 

"The overseeing consultant at the university hospital that I am attending is a leading celiac researcher"

This makes one wonder if his motives are entirely altruistic or whether they are influenced by the desire to put a feather in his own cap & write a paper on this. 

Hey, nevermind me, I am admittedly jaded and a bit rebellious to boot.

IMHO, for them to ask you to do this, they OWE you full disclosure by presenting all the results of ALL the testing including the pathology reports of the endoscopy they performed. After all, it is you who are risking your health not them. Perhaps you could have a "sit down" with the overseer and relate this line of reasoning to him. 

I DO understand where you are coming from as well but I still think you should have access to all the lab work so you can make a fully informed decision. 

I wish you well my friend & support you no matter what you decide and hope you can come to a decision without second guessing yourself. 

Please let us know how it goes. 

[mommida]

There are two things that stand out for current research.  Zonulin levels, which are showing up in non-celiac individuals who are reacting to gluten.  Eosinophilic Gastro Intestinal Disorders (EGID)- linked to Celiac disease especially if gluten is a "trigger" the individual.  (but eosinophil levels should have been screened by the pathologists in your biopsy samples- and damage can be seen during the scoping (unless the damage is deeper)

While I don't want you to be a human guinea pig (also known as a Cavy), I do want you to be correctly diagnosed so you can get healthy.  If there is any eosinophil involvement, there may be more than one trigger (gluten) that is making you ill.  If you decide not to further test, I urge you to keep a food journal.  The journal may help you track down any other further food intolerances and keep you on a healthy track in your diet.  When you are hungry and the only gluten free item you can find is a bag of potato chips -well you have to be more proactive planning out a healthy gluten free diet.