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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2023

Open Access 01-12-2023 | Gaucher Disease | Research

Changing clinical manifestations of Gaucher disease in Taiwan

Authors: Wen-Li Lu, Yin-Hsiu Chien, Fuu-Jen Tsai, Wuh-Liang Hwu, Yen-Yin Chou, Shao-Yin Chu, Meng-Ju Li, An-Ju Lee, Chao-Chuan Liao, Chung-Hsing Wang, Ni-Chung Lee

Published in: Orphanet Journal of Rare Diseases | Issue 1/2023

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Abstract

Background

Gaucher disease (GD) is a lysosomal storage disorder characterized by deficient glucocerebrosidase activity that results from biallelic mutations in the GBA1 gene. Its phenotypic variability allows GD to be classified into 3 subtypes based on the presence and extent of neurological manifestations. Enzyme replacement therapy (ERT) has been available for all patients with GD in Taiwan since 1998. Newborn screening (NBS) for GD has been available since 2015. This study attempted to unveil the clinical features of patients diagnosed with GD during different eras in Taiwan.

Materials and methods

Data from the health records of two tertiary hospitals responsible for two-thirds of the patients with GD in Taiwan were used. The study population included all patients identified as having GD between 1998, and April 2022, in these two hospitals for review. A total of 42 individuals were included, six of whom were diagnosed by NBS.

Results

Our cohort presented a higher proportion of GD3 individuals, both by clinical suspicion and by NBS diagnosis, than that reported worldwide. The major subtypes that were recognized following NBS diagnosis were GD2 and GD3. The majority of GD patients carry at least one p.Leu483Pro variant. The 5-year survival rates were 0% for GD2 patients and 100% for patients with other subtypes. Patients diagnosed during the post-NBS era were free of symptoms on initial presentation, except for those with the GD2 subtype. For those diagnosed earlier, ERT was shown to be effective in terms of improved hemograms and prevented bone crises. However, the neurological symptoms in GD3 patients progressed despite ERT intervention.

Conclusion

ERT is essential in reversing the hematological presentations and preventing the skeletal complications of GD. Timely diagnosis of GD with NBS allows for early intervention with ERT to prevent disease progression and complications. However, the need for effective intervention for neurological dysfunction remains unmet.
Appendix
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Metadata
Title
Changing clinical manifestations of Gaucher disease in Taiwan
Authors
Wen-Li Lu
Yin-Hsiu Chien
Fuu-Jen Tsai
Wuh-Liang Hwu
Yen-Yin Chou
Shao-Yin Chu
Meng-Ju Li
An-Ju Lee
Chao-Chuan Liao
Chung-Hsing Wang
Ni-Chung Lee
Publication date
01-12-2023
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2023
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-023-02895-z

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