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Case-Finding Flops in Detecting Celiac Disease

— Researchers need better markers for disease risk

MedpageToday

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LAS VEGAS -- Current case-finding methods for identifying patients who should be tested for celiac disease don't work very well in practice, a researcher said here.

In a case-control study involving 800 residents of Olmsted County, Minn., only 40% of the 400 with previously undiagnosed celiac disease had standard indications to clinically test for the condition -- about as many as among the 400 without celiac disease (37%, P=0.32), , of the Mayo Clinic in Rochester, Minn., told attendees at the .

The conclusion, she said, was that a new method to identify patients at genuinely increased risk for the condition may be needed.

In a comment to 鶹ý, Hujoel described case-finding as ineffective: "It is something that we have right now and it's a tool that we can use but it's really no better than just testing the general population."

"It was kind of interesting because the symptomatic patient population that we typically think would be at most risk actually didn't come out that way in this study," panel moderator of Weill Cornell Medicine in New York City, told 鶹ý. "This type of study helps us understand that we need to do a better job, and to look for better markers."

Current indications to test include:

  • Associated conditions: autoimmune disease, down's syndrome, FHx
  • Classical symptoms: chronic diarrhea, weight loss, malabsorption, vitamin deficiency, iron deficiency, anemia
  • Nonclassical symptoms: epilepsy, osteoporosis, IBS, constipation, elevated LFTs, peripheral neuropathy, abdominal pain, ataxia, infertility

To determine how useful these indicators are in a general population sample, Hujoel and colleagues analyzed stored blood of 35,299 adults -- 40% male, median age 44.2 -- living in Olmsted County who were not previously diagnosed with celiac disease.

The researchers winnowed these down to two groups -- those with tissue transglutaminase antibodies greater than or equal to three and those with less than three -- then identified those with endomysial antibodies, indicating celiac disease.

That left them with 400 cases of previously undiagnosed celiac disease, to whom 400 nonceliac participants were matched by age and gender.

A blinded medical professional then reviewed their electronic medical records for the standard indications for clinical testing, as well as evidence of actual clinical testing, such as serology or biopsy.

Hujoel and colleagues found that most of the generally accepted indications for clinical testing were as prevalent in the nonceliac controls as in those with the condition.

The team also discovered that clinical testing for celiac disease in the community had not been frequent, but it was higher among controls compared with undiagnosed celiac disease patients (6.5% versus 2.3%, P=0.005). Hujoel mentioned that this may have been due to higher rates of dyspepsia and chronic diarrhea in the control group.

Although case-finding is not the ideal method for identifying people with celiac disease, Hujoel stressed the importance of continuing to test people for this largely underdiagnosed condition.

"We found that people who have signs and symptoms of celiac disease, if you identify them and if you treat them, their quality of life improves. But you have to take that with the fact that people who are asymptomatic with celiac disease may not actually benefit from detections," she told 鶹ý.

She suggested looking at hypothyroidism, as well as family history, as potential indicators.

Schnoll-Sussman also spoke to the future of science related to celiac disease: "We are trying to look for a cost-effective way to do large population-type screening and we're just not there yet. But this [study] helps us move a little bit forward to better understand what we should not be doing."

Disclosures

Hujoel has declared no relevant financial relationships.

Primary Source

American College of Gastroenterology

Hujoel E, et al "Real life case finding of undiagnosed celiac disease. Exposing the celiac ugly truth?" ACG 2016; Abstract 27.