Prior Misdiagnosis of Celiac Disease Is Common Among Patients Referred to a Tertiary Care Center: A Prospective Cohort Study

OBJECTIVES: Interest of patients and physicians in celiac disease is growing worldwide, but without a corresponding increase in the awareness of the disease. Many patients are diagnosed as celiacs even without completing the whole diagnostic process, with consequent risk of misdiagnosis and delay in the evaluation of other diseases. The objective of this study was to assess the rates of prior celiac disease misdiagnosis among patients referred to a tertiary care center. METHODS: From June 2013 to December 2014, we prospectively recruited patients referred for the first time to our Celiac Disease Center. Patients with a previous diagnosis of celiac disease underwent a diagnostic revaluation by second reading of duodenal tissue slides, dosage of specific antibodies, and/or duodenal biopsy sampling; HLA status was investigated in pertinent cases. RESULTS: A total of 198 subjects were recruited. Of these, 91 “naïve” patients (46%) started the diagnostic screening for celiac disease; 58 of them (64–29% of the whole sample) were diagnosed as celiacs. The remaining 107 patients (54%) came with a previous diagnosis of celiac disease: of these, 52 (49–26% of the whole sample) presented with confirmed diagnosis of celiac disease, whereas 55 (51–28% of the whole sample) underwent diagnostic revaluation. After the reassessment, diagnosis was rejected in 43 cases (78–22% of the whole sample) and confirmed in the remaining 12 (22–6% of the whole sample). Overall, diagnosis was confirmed in only 64 of the 107 subjects with a previous diagnosis (60–32% of the whole sample). Diagnosis of celiac disease was more frequently confirmed in “naïve” patients compared those with a questionable previous diagnosis (64% vs. 22% P<0.0001). CONCLUSIONS: A considerable number of patients referred to a tertiary care center are inaccurately diagnosed with celiac disease. Although we cannot exclude that uncertain diagnosis was a reason for the referral, we suggest greater adherence to guidelines to minimize the burden of celiac disease misdiagnosis.