Advances in the sociodemographic, clinical, enzymatic and molecular characterization of patients with Gaucher disease in southwestern Colombia
2Med, Pediatric, MSc and PhD Medical Genetics, Colombia
3Med. MSc and PhD Medical Genetics, Colombia
4Postgraduate in biomedical sciences, Universidad del Valle, Colombia
5Research group congenital metabolic diseases, Universidad Del Valle, Colombia
Background: Gaucher disease (GD) is the most prevalent lysosomal storage disease, and bone
involvement is the most disabling condition. Methodology: A retrospective observational cross-sectional study was performed using a prospectively collected database of 30 patients diagnosed with GD from southwestern Colombia. Results and discussion: A total of 30 patients (16 women and 14 men) were studied. The mean age was 35 years ( IQR 9–74). The initial symptom prior to the diagnosis of the patients in 87% included visceromegaly and cytopenias. 23% with a family history of GD, 6% with Ashkenazi Jewish ancestry. GBA gene analysis reported homozygosity in 1/30 patients (3.3%), compound heterozygosity in 12/30 (40%), heterozygous patients in 10/30 (33.3%), and 23% of patients still didn`t have with molecular test; however, all patients presented decreased enzymatic activity at diagnosis: mean 2.17 μmol/L/h (RV >4.1 umol/l). The most frequently genetic variant was p.Asn409Ser (42%), followed by p.Lys237Glu (18%) and p.Leu483Pro (10%). The mean age at diagnosis was 26 years and the diagnostic age range was 4 to 70 years. After treatment 20% presented hepatosplenomegaly, 10% with previous splenectomy. Regarding bone disease, 20% reported bone pain, as well as medullary infiltration of the lumbar spine, 10% osteopenia, areas of microinfarction, decreased height and morphology of the vertebral bodies of T10, T11, and T12, and 9% reported medullary infiltration of the femur. No patient reported previous fractures or osteonecrosis, and 1 patient reported hip joint replacement. 79.5 % patients received specific therapy [ERT Alpha : 63.3% Beta : No report ; TRS : 16.2%] Conclusion: The project to collect data from each patient is still under construction. In Colombia there is no similar case follow-up study in patients with DG, so advancing in the understanding of clinical manifestations will contribute to an early and targeted diagnosis and treatment, providing adequate genetic counseling, thus reducing morbidity and mortality through medicine medicine 4P (personalized, predictive, preventive, and participatory).
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