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Dr. Isabel Hujoel Isabel Hujoel
Isabel A. Hujoel, MD

Oral 27 Real-Life Case Finding of Undiagnosed Celiac Disease: Exposing the Celiac Ugly Truth?

Author Insight from Isabel A. Hujoel, MD, Mayo Clinic

What’s new here and important for clinicians?

The current paradigm for detecting celiac disease is through case-finding (targeted testing of at-risk individuals). The rationale behind this approach is that the presence of symptoms such as diarrhea or abnormal liver function tests will increase the pre-test probability of celiac disease and therefore increase the positive-predictive value of serologic testing.

Our study found that case-finding was not effective at discriminating between those with undiagnosed celiac disease and referents. The population identified through case-finding as being “at-risk” for celiac disease had the same prevalence of celiac disease as the general population. Additionally, we found that the specific indications used to identify “at-risk” individuals were similar in frequency in cases of undiagnosed celiac disease and referents. Hypothyroidism was the only indication that was more frequent among those with undiagnosed celiac disease, and in fact gastrointestinal symptoms, including dyspepsia and chronic diarrhea, were more frequent in those without celiac disease. Another significant finding of our study was that testing for celiac disease in our population was low. Ultimately, only 23% of undiagnosed cases received a clinical diagnosis of the disease.

Our findings have two implications for clinical practice. The first is that case-finding may not be effective and that a new approach for detection of celiac disease in the general population needs to be identified. The second is that testing for and awareness of celiac disease remains low and that the majority of cases remain undetected. As new methods of detection are being investigated, the question remains as to how clinicians should evaluate for celiac disease in their practice. The challenge is to increase detection among persons with undiagnosed celiac disease and decrease exposure of people without celiac disease to the risk or even harm associated with screening.

What do patients need to know?

Celiac disease affects roughly 1% of the population but is largely underdiagnosed. Identifying people with the disease is challenging but needed. Our research found that: (1) the current method used to detect celiac disease is not effective at distinguishing between those with and without the disease; and (2) that the disease was largely undiagnosed in our tested population, confirming a similar finding in prior studies.

The current method for diagnosis involves testing for celiac disease in individuals who have certain symptoms and signs, such as diarrhea or anemia, or conditions, such as type 1 diabetes, that are believed to be associated with celiac disease. Our study looked at each of these accepted indications to test and found that only hypothyroidism was more frequent in those with undiagnosed celiac disease. Symptoms classically associated with celiac disease such as diarrhea or abdominal pain were just as likely, and in some cases more likely, to be found in those without the disease as in those with the disease.

What this means for patients is that we do not currently have an effective means of distinguishing who should be tested for celiac disease. Testing for celiac disease carries a risk for harm in that individuals without the disease may test positive through the bloodwork, when they do not in fact have the disease. These “false-positives” can lead to unnecessary procedures, such as upper endoscopies, and increased anxiety. The decision to test for celiac disease should therefore include a conversation on risks and benefits with your provider.

Additionally, one should not assume that they have celiac disease without being evaluated by a doctor. Conversely, one should not assume that they do not have celiac disease because they lack symptoms. The only symptom/condition that we found to be associated with having celiac disease is hypothyroidism. In our study we were unable to evaluate the importance of having a family history of celiac disease. Prior studies have shown that having a family history of celiac disease confers an increased risk to family members, and we would encourage you to share that information with your physician.

Read the Abstract

See Figure 1

Author Contact

Isabel A. Hujoel, MD, Mayo Clinic

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