Impact of delay in diagnosis in patients with celiac disease: A study of 570 patients at a tertiary care center

Background: The varied presentation of celiac disease (CD) makes it challenging to diagnose it and predisposes to a significant diagnostic delay. We undertook a study to evaluate the effect of delayed diagnosis of CD on its systemic and laboratory manifestations.

Methods: In this retrospective analysis of prospectively collected data (January 2015 to December 2018), patients with CD ≥ 12 years were evaluated for clinical presentation and laboratory parameters. Based on duration of symptoms at the time of diagnosis, the patients were divided into 2 groups: group 1 (early diagnosis): ≤ 3 years, group 2 (delayed diagnosis): > 3 years. The two groups were compared for demographic, clinical, laboratory, and histological manifestations.

Results: Of the 570 patients, 289 constituted group 1 (early diagnosis) and 281 group 2 (delayed diagnosis). There was no age or sex difference between the two groups and both had comparable body mass index (BMI). Patients in the delayed group had lower rates of diarrhea as initial presentation with lower physician and gastroenterologist consultation and significantly higher rates of anemia, pubertal delay, and menstrual irregularities as well as higher rates of low hemoglobin, low ferritin, low transferrin saturation, and low vitamin D levels. The delayed group also had significantly higher anti-tissue transglutaminase antibody (anti-tTg Ab) titers and higher grades of villous atrophy at presentation.

Conclusion: Patients with CD with more than 3 years of symptoms, more often have atypical presentation, anemia, pubertal delay, and more advanced histological changes. They also have fewer physician and gastroenterologist consultations. This underlines the need for proper awareness to ensure early diagnosis and treatment.