Celiac Disease: New Guidelines for Diagnosis and Management

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Today, I will talk about celiac disease. The background of this information is a new guideline published by the American College of Gastroenterology (ACG).^[1]Rubio-Tapia, Murray, and colleagues around the country have put together an excellent set of evidence-based guidelines to help us in dealing with our patients with celiac disease, and including celiac disease in the differential diagnosis.

I will start with a little bit of background and then leave you with the things that I would put on my top 10 list of lessons learned from the ACG guidelines.

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Not a day goes by in my patient population in which celiac disease doesn't come up for consideration, if not for diagnostic testing. It is a very prevalent condition. It is estimated that 1% of people in the United States have celiac disease. It is grossly underdiagnosed, and it has significant complications. The complications of celiac disease include weight loss and malnutrition. The metabolic consequences of bone mineral deficiency, such as fractures and other problems seen with demineralization of the bone are not inconsequential and certainly preventable if the disease is recognized early. Celiac disease is associated with a variety of cancers, such as small-bowel cancers, adenocarcinoma, lymphoma, and even esophageal cancer. These diseases are potentially preventable if we recognize the disease up front.

When do you consider the diagnosis of celiac disease? Celiac disease should probably be put on the plate a lot more than it is currently. When a patient walks in with classic signs and symptoms, such as diarrhea, malabsorption, and weight loss, it's pretty easy to think, "I should consider testing for celiac disease," or at least, celiac disease should be near the top of the list. However, the presentations that we see are invariably much more subtle.

Patients come in with postprandial bloating -- maybe not diarrhea -- but with weight loss, iron deficiency, and abnormal liver function tests. Patients might be having problems with metabolic bone disease. They might have endocrine consequences, such as amenorrhea or infertility. Some have dermatologic manifestations, such as dermatitis herpetiformis, with oral ulcerations. You might think about Behçet disease, or herpes, or a variety of things, but celiac disease also should be in that differential. Patients with constipation might have celiac disease. We need to understand how wide the net is for considering the diagnosis of celiac disease.

Certain patient populations have an inordinately higher prevalence of celiac disease. As I mentioned before, it is 1% across the board in the general population. If you test patients presenting with dyspepsia for celiac disease, the prevalence is 1%. So dyspepsia is not a discriminator for diagnostic testing. In patients with type 1 diabetes, the prevalence of celiac disease is considerably higher -- it is 3%-10%.

It is controversial whether patients with type 1 diabetes should be empirically tested for celiac disease. If they have any symptoms, the recommendation is to test those patients and certainly monitor them. If they are human leukocyte antigen (HLA)-DQ2 and -DQ8 negative, you can dismiss the diagnosis of celiac disease.

The other population that has come to light is patients who have a family history of celiac disease. Testing is controversial here, as well. You can test them, and if their HLA-DQ2 and -DQ8 results are negative, they don't need further follow-up. Or you can follow these patients with periodic testing and assessment, looking for signs and symptoms that would drive the diagnostic testing strategy.