Insights into morbidity and mortality in Gaucher disease: a cohort study.
7 affiliations
- 1School of Medicine, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.
- 2National Institute for Rare Diseases (InRaras), Porto Alegre, Brazil.
- 3Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
- 4Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Brazil.
- 5Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory, Experimental Research Center, HCPA, Porto Alegre, Brazil.
- 6Universidade do Vale do Rio dos Sinos (UNISINOS), São Leopoldo, RS, Brazil.
- 7Department of Genetics, UFRGS, Porto Alegre, Brazil.
Abstract
Background
Gaucher disease (GD) is a rare lysosomal disorder classified, on the basis of neurological involvement, into type 1 (GD1, non-neuronopathic) and types 2 (GD2) and 3 (GD3) (neuronopathic). Data on morbidity and mortality in Latin American cohorts remain scarce.Aims
To characterise morbidity and mortality patterns in a Brazilian GD cohort.Methods
Retrospective cohort study at a single GD referral centre in Porto Alegre, Brazil (2003-2023; n = 53; GD1 = 45, GD2 = 4, GD3 = 4). Diagnosis was molecularly confirmed by Sanger and massive parallel sequencing of GBA1. Comorbidities and causes of death were retrieved by chart review; survival was estimated by Kaplan-Meier analysis. Results: Median follow-up was 15 years. In GD1, comorbidities were predominantly psychiatric (71%), metabolic/endocrinological (69%) and cardiovascular (60%). Nine patients (17%) died: four GD1 patients (median age 65 years; three from malignancy, one from sepsis), all four GD2 patients (median age 5 months; respiratory or hepatic failure, sepsis) and one GD3 patient (Sudden Unexpected Death in Epilepsy at 27 years).Conclusions
The phenotype-specific mortality pattern - malignancy as the leading cause of death in GD1, uniform early death in GD2 reflecting the disease's neurological trajectory rather than a failure of enzyme replacement therapy, and neurological death in GD3 - underscores the substantial burden of oncological, cardiovascular, metabolic and neurological comorbidities in this population and supports systematic multidisciplinary surveillance as a routine component of GD care in Brazil, even in resource-limited settings.Take-home message
Adult patients with Gaucher disease type 1 require close clinical monitoring for oncological, cardiovascular, metabolic and psychiatric comorbidities. Gaucher disease type 2 remains a devastating disease with a poor prognosis under current therapies.
Related
- Next-Generation Sequencing in Practical Wildlife Disease Investigation: Metagenomic Insights into European Bison and Gazelle Mortality and Morbidity Events.
- Diagnostic Delay in Gaucher Disease and the Role of Gastroenterology in the Diagnostic Journey: A Real-World Cohort Study
- Biological aging increases risk of postoperative morbidity and mortality: an international, multi-cohort study
- Antiprotozoal drug exposure and reduced long-term mortality and morbidity: a multi-cohort pharmacoepidemiologic study
- Factors Associated with Predischarge Morbidity and Mortality in Small for Gestational Age Infants: A Single-Center Retrospective Cohort Study
BibTeX
@article{teixeira2026insights,
title = {{Insights into morbidity and mortality in Gaucher disease: a cohort study.}},
author = {Lucas Ferreira Teixeira and Fabiano Poswar and Dévora Natalia Randon and Amanda Pasqualotto and Ida Vanessa Doederlein Schwartz},
journal = {Molecular genetics and metabolism reports},
year = {2026},
month = oct,
doi = {10.1016/j.ymgmr.2026.101369},
url = {https://europepmc.org/article/MED/42927298},
note = {CC BY},
}
RIS
TY - JOUR
TI - Insights into morbidity and mortality in Gaucher disease: a cohort study.
AU - Lucas Ferreira Teixeira
AU - Fabiano Poswar
AU - Dévora Natalia Randon
AU - Amanda Pasqualotto
AU - Ida Vanessa Doederlein Schwartz
PY - 2026
DA - 2026/10/17
JO - Molecular genetics and metabolism reports
DO - 10.1016/j.ymgmr.2026.101369
UR - https://europepmc.org/article/MED/42927298
AB - Background Gaucher disease (GD) is a rare lysosomal disorder classified, on the basis of neurological involvement, into type 1 (GD1, non-neuronopathic) and types 2 (GD2) and 3 (GD3) (neuronopathic). Data on morbidity and mortality in Latin American cohorts remain scarce.Aims To characterise morbidity and mortality patterns in a Brazilian GD cohort.Methods Retrospective cohort study at a single GD referral centre in Porto Alegre, Brazil (2003-2023; n = 53; GD1 = 45, GD2 = 4, GD3 = 4). Diagnosis was molecularly confirmed by Sanger and massive parallel sequencing of GBA1. Comorbidities and causes of death were retrieved by chart review; survival was estimated by Kaplan-Meier analysis. Results: Median follow-up was 15 years. In GD1, comorbidities were predominantly psychiatric (71%), metabolic/endocrinological (69%) and cardiovascular (60%). Nine patients (17%) died: four GD1 patients (median age 65 years; three from malignancy, one from sepsis), all four GD2 patients (median age 5 months; respiratory or hepatic failure, sepsis) and one GD3 patient (Sudden Unexpected Death in Epilepsy at 27 years).Conclusions The phenotype-specific mortality pattern - malignancy as the leading cause of death in GD1, uniform early death in GD2 reflecting the disease's neurological trajectory rather than a failure of enzyme replacement therapy, and neurological death in GD3 - underscores the substantial burden of oncological, cardiovascular, metabolic and neurological comorbidities in this population and supports systematic multidisciplinary surveillance as a routine component of GD care in Brazil, even in resource-limited settings.Take-home message Adult patients with Gaucher disease type 1 require close clinical monitoring for oncological, cardiovascular, metabolic and psychiatric comorbidities. Gaucher disease type 2 remains a devastating disease with a poor prognosis under current therapies.
SN - 2214-4269
ER -