Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Multicenter Study
. 2023 Sep-Oct;37(5):2276-2283.
doi: 10.21873/invivo.13330.

Incidence of Pulmonary and Respiratory Conditions in Gaucher Disease from 2000 to 2020: A Multi-institutional Cohort Study

Yu-Nan Huang  1   2 , Jing-Yang Huang  3   4 , Wen-Ling Liao  5   6 , Shang-Lun Chiang  7 , Kai-Wen Liu  8 , DA-Tian Bau  9   10 , Chung-Hsing Wang  11   2   8   12 , Pen-Hua Su  13   2
Affiliations
Multicenter Study

Incidence of Pulmonary and Respiratory Conditions in Gaucher Disease from 2000 to 2020: A Multi-institutional Cohort Study

Yu-Nan Huang et al. In Vivo. 2023 Sep-Oct.

Retraction in

  • Retractions.
    [No authors listed] [No authors listed] In Vivo. 2024 Jul-Aug;38(4):2097. doi: 10.21873/invivo.13670. In Vivo. 2024. PMID: 38936953 No abstract available.

Abstract

Background/aim: Gaucher disease (GD) is a rare lysosomal storage disorder that can involve the lungs and pulmonary vasculature. The long-term effects of GD on respiratory health remain unclear due to limited data on the natural history of this disease. We analyzed electronic health records for 11,004 patients with GD over 10-20 years to determine the incidence of pulmonary hypertension (PH), lung disease, and other respiratory comorbidities and better understand disease course to guide management.

Patients and methods: We conducted a retrospective cohort study using the TriNetX research database of 130 million international patients. The incidence of primary/secondary PH, pulmonary heart disease, interstitial/obstructive/restrictive lung disease, pulmonary hemorrhage, and pulmonary embolism was assessed in patients with GD from 2000-2020.

Results: Incidence rates of all conditions assessed increased from 10 to 20 years of follow-up. Excess risk of PH, lung disease, and pulmonary hemorrhage was significantly higher in GD patients after 20 versus 10 years.

Conclusion: Extended follow-up in GD is associated with substantially higher risks of PH, lung disease and other respiratory comorbidities, highlighting the need for close monitoring and early intervention to mitigate long-term pulmonary decline. Improved understanding of mechanisms driving respiratory deterioration can support the development of novel treatments to optimize outcomes in this population at high risk of pulmonary morbidity and mortality.

Keywords: Gaucher disease; glucocerebrosidase; obstructive lung disease; peripheral neuropathy; pulmonary hypertension.

PubMed Disclaimer

Conflict of interest statement

The Authors declare that the research was conducted without any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1. Flow diagram of Gaucher disease patients’ selection from the TriNetX database.
Figure 2
Figure 2. Incidence of pulmonary and respiratory conditions in Gaucher Disease for 10-years and 20-years follow-up.
Figure 3
Figure 3. Prevalence of pulmonary and respiratory conditions in Gaucher Disease for 10-years and 20-years follow-up.
Figure 4
Figure 4. Incidence rate of pulmonary and respiratory conditions in Gaucher Disease for 10-years and 20-years follow-up. Primary pulmonary hypertension (PPH), other secondary pulmonary hypertension (OSPH), pulmonary hypertension (PH), pulmonary heart diseases (PHD), interstitial lung disease (ILD), obstructive lung disease (OLD), restrictive lung disease (RLD), pulmonary hemorrhage (PHR), and pulmonary embolism (PE).
See this image and copyright information in PMC

References

    1. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008;372(9645):1263–1271. doi: 10.1016/S0140-6736(08)61522-6. - DOI - PubMed
    1. Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, Grewal RP, Yu K. Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher’s disease. N Engl J Med. 1991;324(21):1464–1470. doi: 10.1056/NEJM199105233242104. - DOI - PubMed
    1. Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2) doi: 10.3390/ijms18020441. - DOI - PMC - PubMed
    1. Hruska KS, Lamarca ME, Scott CR, Sidransky E. Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA) Hum Mutat. 2008;29(5):567–583. doi: 10.1002/humu.20676. - DOI - PubMed
    1. Revel-Vilk S, Fuller M, Zimran A. Value of glucosylsphingosine (Lyso-Gb1) as a biomarker in Gaucher disease: A systematic literature review. Int J Mol Sci. 2020;21(19):7519. doi: 10.3390/ijms21197159. - DOI - PMC - PubMed

Publication types