Prevalence, clinical profiles, and quality of care in Gaucher disease in Colombia

Abstract Purpose Our aim was to describe the prevalence, clinical profile, and quality of care of people with GD in Colombia. Methods Colombian health insurers provided data on GD patients and healthcare services from January 1 to December 31, 2023. Collected data included demographic and clinical details for new and existing cases receiving healthcare. Crude and age-standardized prevalence were calculated at national, regional, and municipal levels. Sociodemographic and clinical characteristics, treatment, and quality-of-care indicators were analyzed by GD type and stratified by health insurance scheme. Results A total of 204 cases were analyzed. The age-standardized prevalence was 3.81 cases per million inhabitants (95% CI : 3.30–4.37), highest in the third-payer insurance and in Bogotá, D.C. All cases achieved 100% compliance for acid β -glucosidase activity testing and hematology evaluation at diagnosis across insurance schemes. However, state insurance covered cases lacked access to complementary specialties and essential diagnostic tests. Nationally, quality of care for prevalent cases showed gaps in clinical and imaging tests, specialty access, and comprehensive assessments. Conclusions This study enriches the limited literature on GD in Colombia, identifying national deficiencies and gaps in care between insurance schemes. Disparities in clinical outcomes highlight the need for improved diagnostic practices, increased awareness, and better access to specialized testing and comprehensive care to enhance patient outcomes.