Brian Lacy, MD, and Benjamin Lebwohl, MD, on Celiac Disease

In this podcast, Brian Lacy, MD, and Benjamin Lebwohl, MD, discuss the prevalence of celiac disease, the importance--and challenges--of adhering to a gluten-free diet, the rise of gluten or wheat sensitivity, and more.

Brian Lacy, MD, is a professor of medicine and gastroenterologist at Mayo Clinic Jacksonville, and Section Editor for Stomach and Small Bowel Disorders for the Gastroenterology Learning Network. Benjamin Lebwohl, MD, is the Louis and Gloria Flanzer Scholar at Columbia University Medical Center and the recipient of a Young Investigator Research Grant from the Celiac Disease Foundation.

TRANSCRIPT:

Hello, and welcome to another podcast from the Gastroenterology Learning Network. I'm your moderator, Rebecca Mashaw. Today, Dr. Brian Lacy begins a series of podcasts with Dr. Ben Lebwohl, discussing a common condition that gastroenterologists see frequently in their practice, celiac disease. They begin this podcast series today by giving us an overview of celiac disease.

Dr. Brian Lacy: Welcome to this Gastroenterology Learning Network podcast. My name is Brian Lacy. I'm a professor of medicine at the Mayo Clinic in Jacksonville, Florida. I'm delighted to be speaking today with Dr. Benjamin Lebwohl, who is associate professor of medicine and director of clinical research at the Celiac Disease Center at Columbia University in New York City.

Our topic today is one that affects every practicing gastroenterologist, celiac disease. Ben, thank you so much for being on this podcast today. Let's start with the basics. How common is celiac disease?

Dr. Benjamin Lebwohl: Common. Celiac disease is present in nearly one percent of the general population in the United States and in many, if not most, countries around the world. Nearly one in 100 of us have it. That said, many people with celiac disease don't know that they have it, and they go around undiagnosed.

Some of those people are going to the doctor, going to the gastroenterologist, either because they never got the full workup for what seemed to be irritable bowel syndrome, or they had a workup that somehow had the diagnosis elude the doctor and patient, they're continuing to have undiagnosed celiac disease and are eating gluten.

We recently did a study of 23andMe, the direct-to-consumer genetic testing service, and found that nearly 40% of the US population has a genetic predisposition to celiac disease based on the HLA type. Yet, most of those 40% of us don't go on to develop celiac disease, closer to 1% of all of us.

Dr. Lacy: Great. Thank you. A lot more common than we were taught in the old days. Ben, when you're evaluating somebody in the GI clinic, can you consider celiac disease in the differential diagnosis?

Put yourself in the shoes of somebody who's out in private practice or not in a specialized center like yourself. What are some of the common risk factors that we should be aware of when considering the diagnosis of celiac disease?

Dr. Lebwohl: One of the challenges of identifying people with celiac disease, it has all the different manifestations. It's such a long list.

When thinking about common or high-yield scenarios to test someone for celiac disease, certainly chronic diarrhea. Even if the majority of people with celiac disease don't have diarrhea, certainly perhaps 30, 40% of everyone with celiac disease has diarrhea at the time of their workup and diagnosis.

That includes diarrhea-predominant irritable bowel syndrome or mixed irritable bowel syndrome. That's an important one.

Other important ones are iron-deficiency anemia and metabolic bone disease, so osteoporosis, particularly at a younger age or in the male gender, populations where you might not think someone would necessarily be expected to have low bone density, frequent fractures. Those are the big ones.

Another one that often comes the gastroenterologist's way is abnormal LFTs or transaminases, elevated AST and ALT. Celiac disease might not be the first-line set of tests one gets, but after ruling out viral hepatitis and thinking about NAFLD and the common causes of transaminase elevations, celiac disease, it's not an uncommon mode of presentation.

Those transaminases often normalize after diagnosis and adoption of the gluten-free diet.

Dr. Lacy: That's wonderful. Ben, recognizing that the presentation of celiac disease does vary from patient to patient, and you covered some of this in that last question, what are the most common symptoms and signs that healthcare providers should be aware of?

Dr. Lebwohl: Certainly, diarrhea is important, chronic diarrhea, a diagnosis of irritable bowel syndrome, actually. If it's not constipation-predominant irritable bowel syndrome, celiac disease should be excluded. That can be done just using serologies. It's also important to think about risk factors and not just symptoms.

Family history is a very important risk factor. If someone's mother, father or other immediate relative, first-degree family member has celiac disease, your personal risk of celiac disease shoots up from about 1% to closer to 10% . One should have certainly a lower threshold to test for celiac disease in a presence of a family history.

That, I would argue, is the most important risk factor. Related to that, of course, is having a genetic risk factor for celiac disease that is a compatible HLA type. That is not something that people necessarily walk around knowing what they have. Though, in the era of the quantified self and direct-to-consumer genetic testing, some people will be told.

They will know that they have HLA-DQ2, DQ8, and they are at risk for celiac disease. Now, the majority people with that risk factor don't get celiac disease. Just like the majority of people with a relative with celiac disease don't get it, but knowing about those risk factors certainly should lower the threshold for testing.

This is something that's not widely recognized -- potentially, serially testing over time. Someone can go from not having celiac disease to having celiac disease, seroconversion, as it were, especially if someone with a family history, for example, developed new symptoms. Someone has new-onset iron-deficiency anemia.

Just because they have a negative celiac test in their chart in the past doesn't mean that that's a closed case. Repeat testing if the situation warrants, might be a good idea.

Dr. Lacy: Ben, that's a great teaching point. We always ask about a family history of colorectal cancer and other GI malignancies, and we should all just incorporate that question about a family history of celiac disease. Thank you for pointing that out.

Rebecca: Thank you for joining us today for this first in a series of podcasts on celiac disease. Watch for our next podcast coming up soon in which Drs. Lebwohl and Lacy will discuss testing and biopsy for celiac disease. Thanks for listening.