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.