Patients with Gaucher Disease Type 1 and Their Outcome: A Case Series

Naser Ali Mirhosseini; Maryam Saeida-Ardekani; Shima Mirhosseini

doi:10.18502/wjpn.v6i1.14253

Naser Ali Mirhosseini Children Growth Disorder Research Center, Shahid Sadoughi Hospital, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Maryam Saeida-Ardekani Mother and Newborn Health Research Center, Shahid Sadoughi Hospital, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Shima Mirhosseini Department of Biology, Faculty of Science, Yazd University, Yazd, Iran

DOI: https://doi.org/10.18502/wjpn.v6i1.14253

Keywords: Gaucher Disease; Manifestations; Enzyme Replacement Therapy; Storage Disease

Abstract

Background: Gaucher disease is the most common lysosomal storage disease. Defective activity of the acid β-glucosidose which is encoded by the GBA1 gene, leads to the accumulation of excess amounts of the glucosyl ceramide lipid. Gaucher disease is clinically classified into three variants based on the relative degree and progression of neurological involvement. Gaucher disease type 1 manifests markedly variable phenotypes ranging from asymptomatic individuals to children who have massive hepatosplenomegaly, pancytopenia, and severe skeletal abnormalities.

Case Report: We report a case series of four patients with Gaucher disease type 1 with variable clinical manifestations treated with enzyme replacement therapy (ERT). In follow-up, three patients showed visceral and hematological improvements, while one case did not respond to ERT and died due to liver failure.

Conclusion: Gaucher disease should be considered with differential diagnosis of patients with unexplained organomegaly, who bruise easily and have bone pain which can be treated with ERT.