Demographic, clinical, paraclinical and molecular characterization of patients with Gaucher disease type 1 in southwestern Colombia

Abstract

Introduction: Gaucher disease type 1 (EG1) is a genetic disorder caused by β-glucocerebrosidase enzyme deficiency, leading to sphingolipid accumulation in the body. Bone involvement is common in GD, causing pain, necrosis, and even fractures or growth deficits, which result in painful surgeries and progressive deterioration of quality of life. Methodology: This is a retrospective observational study involving 30 patients diagnosed with EG1 from southwestern Colombia, collecting demographic, clinical, paraclinical, and molecular data. Results and Discussion: The mean age of the patients was 35 years, with 23% having a family history of EG1. The initial symptoms in 87% of the patients were visceromegaly and cytopenias. The average time from symptom onset to diagnosis was 7 years. The patients presented with hematologic diseases (37%), renal diseases (3%), neurological diseases (7%), and bone diseases (33%). The mean β-glucosidase activity was 2.33 μmol/hr/ml, and the average time between diagnosis and treatment initiation was 1.33 years. All patients showed reduced enzyme activity at diagnosis. Of these, 76.6% received specific therapy, including Enzyme Replacement Therapy (ERT) and Substrate Reduction Therapy (SRT). Genetic analysis revealed homozygosity in 4%, compound heterozygotes in 52%, and simple heterozygotes in 40%. Thirteen pathogenic variants were identified, with the most common being p.Asn409Ser (42%). Conclusion: This is the first Colombian study to correlate demographic, clinical, paraclinical, and molecular variables in EG1 patients, providing a database that allows for a multimodal approach to improve the diagnosis and treatment of EG1 in Colombia.