Numbers and Features of Patients With a Diagnosis of Celiac Disease Without Duodenal Biopsy, Based on a National Survey.

Background & Aims: According to guidelines, individuals with symptoms of celiac disease should undergo duodenal biopsy analysis to establish a diagnosis, but little is known about physician adherence to these guidelines. We used a patient-powered research network (PPRN) to compare demographics, diagnoses, symptoms, and treatment between groups of patients with celiac disease diagnosed by biopsy analysis and patients with a diagnosis based on results of serology tests.

Methods: We analyzed data from iCureCeliac-a voluntary, PPRN hosted and distributed by the Celiac Disease Foundation, from January 30, 2016, through August 25, 2016. We compared data from adults with a diagnosis of celiac disease (mean age, 43.4 years; 85.6% female) based on biopsy analysis (n = 780) vs patients with a diagnosis based on only serologic analysis (n = 202) using univariate and multivariable analyses. We collected demographic information, as well as data on type of health care practitioner, where patients obtain their primary information about celiac disease, and the Celiac Disease Quality of Life score, nutritionist referral rates, adherence to the gluten-free diet, ongoing symptoms and use of supplements.

Results: Among patients with a diagnosis based on serology results, 33.3% were diagnosed by non-gastroenterologists vs 20.7% in the biopsy diagnosed group (P < .001). Fewer patients with a diagnosis based on serology results sought nutritional counseling at the time of diagnosis (40.1%) than patients with a diagnosis based on biopsy (58.9%) (P < .001). A higher proportion of patients diagnosed by serology without biopsy took dietary supplements to aid in digestion of gluten (19.8%) than patients with a diagnosis based on biopsy (8.9%) (P < .001). After we adjusted for age and sex, patients with a diagnosis based on serology were less likely to seek nutritional counseling after diagnosis (odds ratio [OR], 0.45; 95% CI, 0.33-0.63), less likely to receive a diagnosis from a gastroenterologist (OR, 0.16; 95% CI, 0.07-0.37), and more likely to use digestive supplements (OR, 2.61; 95%, CI 1.62-4.19).

Conclusions: In an analysis of data from a PPRN, we found that 21% of adult participants with celiac disease did not have a diagnosis based on a duodenal biopsy. Patients with a diagnosis based on serology results were more likely to be diagnosed by non-gastroenterologists, less likely to seek nutritional counseling, and more likely to use dietary supplements. Patients require more education about management of celiac disease and referral to gastroenterologists for duodenal biopsy confirmation of their disease.