Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease

• Published in: Molecular genetics and metabolism reports Vol. 25; p. 100652
• Main Authors: Lee, Fu-Shiuan, Yen, Hsiu-Ju, Niu, Dau-Ming, Hung, Giun-Yi, Lee, Chih-Ying, Yeh, Yi-Chen, Chen, Paul Chih-Hsueh, Chang, Sheng-Kai, Yang, Chia-Feng
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.12.2020; Elsevier
• Subjects: Glucocerebrosidase; Infiltrative lung disease; Lysosomal storage disease; Short Communication; PEF; Glucocerebrosidase; FVC; ERT; FEV; FEF; HRCT; Lysosomal storage disease; CXR; Infiltrative lung disease; GD; HSCT; GD, Gaucher disease; PEF, Peak expiratory flow; CXR, Chest X-ray; FEF, Forced expiratory flow; ERT, Enzyme replacement therapy; FEV, Forced expiratory volume; HSCT, Allogeneic hematopoietic stem cell transplant; HRCT, High-resolution computed tomography; FVC, Forced vital capacity
• ISSN: 2214-4269; 2214-4269
• DOI: 10.1016/j.ymgmr.2020.100652

To provide strategies for monitoring and treating severe lung involvement in Gaucher disease. We reviewed the chart of a 5-year-old boy who developed rapidly progressive, severe infiltrative lung involvement of Gaucher disease (GD) and improved after allogeneic hematopoietic stem cell transplant (HSCT), along with other case studies reported before December 2019. He was diagnosed with GD (homozygous mutation at c.1448 T > C, p.L483P), and started receiving enzyme replacement therapy (ERT) at 17 months old. He developed respiratory distress symptoms after 45 months of ERT; chest imaging reported diffuse interstitial infiltration of the bilateral lungs and consolidations at the right lungs. Allogeneic HSCT using cells from a matched unrelated donor was performed four months upon progressive respiratory symptoms. His respiratory symptoms subsided in one month; chest imaging improvement, pulmonary function test improvement, and normalized activity of β-glucocerebrosidase were reported in three months. This is the first report of a patient who received early and regular ERT but developed severe infiltrative lung involvement and recovered after allogeneic HSCT. Based on study results, we suggest regular chest imaging, even for asymptomatic patients. For patients with severe lung involvement, rapid deterioration, and unresponsive to higher ERT dosages, allogeneic HSCT should be considered.