Diagnostic Delay in Gaucher Disease and the Role of Gastroenterology in the Diagnostic Journey: A Real-World Cohort Study

Background/Objectives: Gaucher disease (GD) is a rare lysosomal storage disorder with heterogeneous and often nonspecific clinical manifestations. Despite increasing awareness of Gaucher disease (GD), diagnostic delay remains a clinical challenge because of its heterogeneous and nonspecific presentation. This study evaluated the diagnostic journey of patients with GD, with particular emphasis on diagnostic delay, healthcare specialties encountered before diagnosis, and the involvement of gastroenterology in the diagnostic pathway. Materials and Methods: Patients with GD followed at the Hacettepe University Department of Gastroenterology between January 2014 and December 2024 were included. Demographic and clinical characteristics, age at symptom onset and diagnosis, diagnosis delay, medical specialties consulted before diagnosis, diagnostic methods, GD subtype, and treatment data were obtained from hospital records. Continuous variables were summarized as medians, minimum-maximum values, or interquartile ranges as appropriate, while categorical variables were summarized as frequencies and percentages. Results: Of the 34 patients, 22 (64.7%) were female, and 12 (35.3%) were male. The median age at diagnosis was 17.5 years [minimum(min)–maximum(max), 1–69], and the median age at symptom onset was 9 years (min–max, 1–44). Diagnostic-delay data were available for 21 patients. The median time from symptom onset to diagnosis was 1 year (range, 0–19); 11/21 patients (52.4%) were diagnosed within 1 year, whereas 5/21 (23.8%) experienced a diagnostic delay of ≥5 years. Among patients with available data on the diagnosing specialty, 42.9% were diagnosed in pediatric gastroenterology and 28.6% in adult gastroenterology. Among 23 patients with available prediagnostic referral data, 8 (34.8%) had consulted two or more different medical specialties before diagnosis. Conclusions: Although more than half of the patients with available diagnostic-delay data were diagnosed within 1 year of symptom onset, nearly one-quarter experienced delays of ≥5 years. Gastroenterology services represented a frequent point of diagnosis in this referral-center cohort, although this observation should be interpreted in light of the gastroenterology-based study setting and associated referral and selection bias. These findings should be interpreted cautiously given the small sample size and missing data. Greater awareness of GD in patients presenting with unexplained hepatosplenomegaly and/or cytopenias, together with timely use of disease-specific biochemical and molecular testing, may help shorten the diagnostic journey and reduce unnecessary diagnostic procedures.