Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease
Fu-Shiuan Lee1,2, Hsiu-Ju Yen1,2, Dau-Ming Niu1,2
1Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
Insights
Early enzyme replacement therapy (ERT) did not prevent severe lung disease in a child with Gaucher disease (GD). Allogeneic hematopoietic stem cell transplant (HSCT) led to recovery, suggesting its consideration for severe cases.
Area of Science:
- Rare genetic disorders
- Lysosomal storage diseases
- Pediatric pulmonology
Background:
- Gaucher disease (GD) is a lysosomal storage disorder.
- Severe lung involvement can occur in GD, impacting respiratory function.
- Enzyme replacement therapy (ERT) is a standard treatment for GD.
Purpose of the Study:
- To report a case of severe lung involvement in Gaucher disease despite early ERT.
- To evaluate the efficacy of allogeneic hematopoietic stem cell transplant (HSCT) in treating severe GD-related lung disease.
- To provide strategies for monitoring and treating severe lung manifestations in Gaucher disease.
Main Methods:
- Case review of a 5-year-old boy with severe infiltrative lung disease due to GD.
- Analysis of treatment with enzyme replacement therapy (ERT) and subsequent allogeneic hematopoietic stem cell transplant (HSCT).
- Review of previously reported case studies up to December 2019.
Main Results:
- The patient experienced rapid respiratory deterioration despite 45 months of ERT.
- Following allogeneic HSCT, respiratory symptoms resolved within one month.
- Chest imaging, pulmonary function, and enzyme activity normalized within three months post-HSCT.
Conclusions:
- This is the first report of severe lung involvement in GD recovering after HSCT, despite early ERT.
- Regular chest imaging is recommended for all Gaucher disease patients, including asymptomatic individuals.
- Allogeneic HSCT should be considered for GD patients with severe, rapidly deteriorating, or ERT-unresponsive lung disease.
Objective:
To provide strategies for monitoring and treating severe lung involvement in Gaucher disease.
Study Design:
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.
Results:
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.
Conclusion:
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.
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