Coeliac patients are undiagnosed at routine upper endoscopy

Celiac disease remains underdiagnosed despite available screening tools. Prior research has shown that most affected individuals lack classic symptoms, making diagnosis difficult. Established diagnostic methods include antibody testing and duodenal biopsy. However, biopsy is often reserved for patients with abnormal endoscopic findings or typical symptoms. This gap motivated a closer look at how frequently CD is missed in routine endoscopy settings. No prior work had resolved how many CD cases are undetected due to reliance on endoscopic appearance alone. This uncertainty drove the need for a study examining real-world endoscopy practices. The challenge lies in identifying CD patients who lack typical symptoms or visible mucosal changes. No prior work had estimated the cost-effectiveness of alternative screening strategies in this context. This study aimed to address these limitations by analyzing diagnostic rates in a clinical setting. The findings could refine guidelines for when to perform biopsies.

The study aimed to assess how many CD patients are undiagnosed during routine upper endoscopy. Researchers focused on identifying the proportion of CD cases that would be missed if biopsies were performed only in patients with abnormal mucosa or typical symptoms. The motivation came from the high rate of undiagnosed CD in Australia. The specific problem was the reliance on endoscopic appearance and symptom presentation for biopsy decisions. The study sought to quantify how often CD is missed in clinical practice. It also aimed to evaluate the effectiveness of pre-endoscopy antibody testing as a screening tool. Researchers wanted to determine if a combined strategy could reduce diagnostic misses. The ultimate goal was to propose a cost-effective diagnostic approach.

The study used a prospective clinical audit design. It analyzed data from 2,559 patients who underwent upper gastrointestinal endoscopy between 2004 and 2009. Researchers categorized patients based on clinical indicators for CD. Major indicators included diarrhea, weight loss, iron deficiency, family history, or positive antibodies. Minor indicators included atypical symptoms. Duodenal biopsies were performed in eligible patients. Follow-up antibody testing was conducted for newly diagnosed CD patients. The study compared endoscopic findings with biopsy results. Researchers calculated diagnostic rates and cost estimates for alternative screening strategies.

Thirty-five new CD cases were identified in the 2,559 patients. Twenty-three percent of these cases presented with atypical symptoms. Endoscopic appearance was not diagnostic in 49% of CD patients. Coeliac antibodies were positive in 34 out of 35 CD patients (97% sensitivity). Only 50% of patients over 60 years presented with major clinical indicators. The study found that 28% of newly diagnosed CD patients were over 60 years old. A combined strategy of antibody testing and targeted biopsies could identify all CD cases. The estimated cost of this approach was AUS$4,629 for antibody testing and AUS$3,710 for targeted biopsies.

The study found that at least 10% of CD cases are likely to be undiagnosed at routine upper endoscopy. Patients over 60 years are more likely to present with atypical symptoms. Endoscopic appearance alone is insufficient for CD diagnosis in nearly half of cases. Coeliac antibodies showed high sensitivity in detecting CD. The findings suggest that pre-endoscopy antibody testing could improve detection rates. A combined strategy of antibody testing and targeted biopsies is cost-effective. The authors propose that this approach could reduce the number of undiagnosed CD cases. The results support the need for revised diagnostic guidelines in clinical practice.