It's clear that Celiac Disease can be very challenging to diagnose. Stomach pain, diarrhea and bloating, some of the more common symptoms of Celiac, can also mean anything from gallbladder disease to Irritable Bowel Syndrome (IBS). There is good research, for instance, that shows those diagnosed with IBS are four times as likely to actually have Celiac Disease. Given that this condition is under-diagnosed, it's important to know exactly what testing is effective.
At this time, the only way to definitively diagnose Celiac Disease is by biopsy of the small intestine, which is where Celiac Disease does its damage. That said, in this healthcare environment doctors can't just send everyone with abdominal pain to have a small bowel biopsy. Beyond the fact that this is an invasive procedure with risk, the current estimate is that less than 1% of the population has true Celiac Disease, which is too low for this test to be cost effective. It is better to use other, less invasive tests first. Fortunately, there are several blood tests available, and while they are not as definitive as a biopsy, they are reliable.
The researchers identified 16 studies including more than 6,000 people who had one or more gastrointestinal symptoms. In all the studies, when a patient was suspected to have Celiac Disease, that diagnosis was ultimately confirmed or disproved using small bowel biopsy. For some patients, blood tests were done before sending a patient for biopsy, while for other patients there were no blood tests.
Overall the researchers found that abdominal symptoms alone were not reliable indicators of Celiac Disease. Those with diarrhea, for example, who were sent to have a biopsy done without having a blood test first had very few positive diagnoses of Celiac Disease. Those with diarrhea who did have an initial positive blood test had a much higher likelihood of the diagnosis of Celiac Disease being confirmed through biopsy. Other abdominal symptoms, including chronic diarrhea, constipation, unexplained weight loss, nausea or vomiting, or just pain, had similar results: a small bowel biopsy most often showed no evidence of the problems in the small bowel caused by Celiac Disease.
The biopsy of the lining of the small intestine remains the only definitive way to diagnose Celiac Disease. This review of diagnostic tests shows that the appropriate first step when your doctor suspects Celiac is to do a blood test, then follow up with a biopsy if it is indicated. Jumping directly to a small bowel biopsy when the patient has gastrointestinal issues really would be doing an unnecessary procedure.
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