Celiac Disease is Misdiagnosed Based on Serology Only in a Substantial Proportion of Patients

Abstract

Background: Although the diagnostic process in celiac disease (CeD) has been addressed in several international guidelines, little is known about the actual proceeding in current clinical practice. This study investigated the initial presentation, the diagnostic process, follow-up evaluations, and adherence to a gluten-free diet in CeD patients in a real-life setting in Switzerland from a patient’s perspective. Methods: We performed a large patient survey among unselected CeD patients in Switzerland. Results: A total of 1689 patients were analyzed. The vast majority complained of both gastrointestinal and nonspecific symptoms (71.5%), whereas 1.8% reported an asymptomatic disease course. A total of 35.8% CeD patients were diagnosed by a nongastroenterologist. The diagnostic process differed between nongastroenterologists and gastroenterologists, with the latter more often using duodenal biopsy alone or in combination with serology (94.7% vs. 63.0%) and nongastroenterologists more frequently establishing the diagnosis without endoscopy (37.0% vs. 5.3%, P<0.001). Follow-up serology after 6 months was performed only in half of all patients (49.4%), whereas 69.9% had at least 1 follow-up serology within the first year after diet initiation. About 39.7% had a follow-up endoscopy with duodenal biopsies (after a median of 12 mo; range, 1 to 600 mo). The likelihood of receiving any follow-up examination was higher in patients initially diagnosed by a gastroenterologist. Conclusions: A significant proportion of CeD patients are diagnosed by nongastroenterologists. Under the diagnostic lead of the latter, more than a third of the patients receive their diagnosis on the basis of a positive serology and/or genetics only, in evident violation of current diagnostic guidelines, which may lead to an overdiagnosis of this entity.

Prevalence of Wheat/Gluten-Related Disorders and Gluten-Free Diet in Paraguay: An Online Survey-Based Study

“…In the present study, most of the overlapped diagnoses of CD with NCGS or WA were physician-diagnosed cases (6 out of 8), but only one of the cases reported that a gastroenterologist diagnosed her/his condition (NCGS). Assessing CD by non-specialist physicians is sometimes based on celiac serology only [22], but the prevalence of positive serology is almost three-fold higher than the prevalence of CD based on a formal diagnosis [23]. At the moment, the instrument utilized did not inquire about the diagnostic procedures of the GRDs reported by the participants.…”

Maladie cœliaque de l’adulte révélée par une polysérite

“…Les manifestations cliniques de la MC sont très diverses et la polysérite est exceptionnellement décrite et n’a jamais été rapportée comme révélatrice de la MC jusque-là. La maladie est révélée généralement de manifestations essentiellement digestives selon une récente cohorte Suisse de 1689 patients avec toutefois 1,8% des patients complètement asymptomatiques [ 3 ].…”

Pitfalls in the Diagnosis of Coeliac Disease and Gluten-Related Disorders

“…Even if the diagnostic criteria for CD are very clear and the interest of patients and medical specialists in CD has been growing worldwide, the problem of diagnostic errors in CD is still remarkably relevant in clinical practice, as suggested by the large body of published papers on this topic in the last twenty years [ 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 ]. It has been reported that about 20% of coeliac patients are currently unrecognized and diagnoses are still burdened by a significant diagnostic delay [ 21 , 40 , 51 , 54 , 57 , 58 , 59 , 60 , 61 , 62 ].…”

“…On the other hand, a negative testing for HLA DQ2 and DQ8 has a negative predictive value of nearly 100% [ 36 , 104 ]. However, in our clinical experience and the reported literature, false positive diagnoses of CD can occur on the basis of a genetic test showing HLA DQ2.5 or HLA-DQ8 molecules [ 53 ]. Only rarely a true diagnosis of CD was missed because of wrong interpretation of HLA-DQ2.2 or HLA-DQ7.5.…”