Do I Need to Have a Small Intestin Biopsy to Diagnose Coeliac Disease?

...Yes, it is. Next question....

Nah, we wouldn't be so dismissive as to not answer this perfectly reasonable question more fully. Indeed, this question is often raised: not only by lay people, but by health care professionals, too. Like much else in the world of medicine, there are arguments for and against requiring a small intestine biopsy in order to diagnose Coeliac Disease.

We'll start with the argument against requiring a small intestine biopsy to make the diagnosis. People in the camp argue that if someone has symptoms of CD, and has antibodies that are typically present if you have CD, then the probability of CD is high enough that there's no reason to burden the person with an endoscopy (and small intestine biopsy). Instead, the diagnosis can be made on these grounds alone, and treatment with a gluten free diet can begin. In addition, even if the diagnosis is wrong, the person wouldn't come to harm by unnecessarily following a gluten free diet, and if the diet wasn't helping because, in fact, the person didn't have CD, they'd seek medical attention, and the correct diagnosis would ultimately surface anyhow. Fair enough.

Now take a look at the other side of the argument: Those who argue that a small intestine biopsy should always be done prior to diagnosing CD say that symptoms of CD can be seen with many other ailment, too. Further, they point out that the antibodies found in a person with CD can also be seen with a variety of other, unrelated health problems. They may also add, give the great importance of knowing whether on has Coeliac Disease (in terms of the risk of other family members having it, the need to adhere lifelong to a special - and costly - diet, the potential health complications arising from CD and so on), that it doesn't make sense to risk uncertainty regarding diagnosis when a simple, safe, fast, and very accurate endoscopy and small intestine biopsy can almost always provide definitive evidence on way or the other.

These are pretty darn good argument on either side. But we don't think it's a toss-up. In our opinion, the implications of having Coeliac Disease are so great that the diagnosis should only be made if a small intestine biopsy has been performed and found to show appropriate abnormalities.

Case History: Theresa was a 35 year old woman who was referred to Ian because her family doctor thought she likely had Coeliac Disease. This was a perfectly reasonable supposition because Theresa had compatible symptoms (including bloating, cramping, weight loss, and diarrhea) and a positive tissue transglutaminase antibody (this antibody is almost always found if someone has Coeliac Disease). Ian advised Theresa that he thought her family doctor was correct, but still recommended that an endoscopy and small intestine biopsy be peformed to be sure. With some reluctance, Theresa agreed to the procedure. As it turned out, Theresa's small intestine biopsy was normal and further tests revealed that all her symptoms and her positive antibody were actually related to previously undetected liver disease. If Theresa hadn't been biopsied, a wrong diagnosis would have been made, unhelpful therapy (a gluten free diet) administered, her correct diagnosis delayed, and proper therapy (for her liver disease) given only belatedly.

Taken From: Coeliac Disease for Dummies, Chapter 17: Ten Frequently Asked Questions. Written by Dr Ian Blumer MD & Dr Shelia Crowe MD