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Review
. 2020 Oct;12(Suppl 2):S235-S247.
doi: 10.21037/jtd-cus-2020-007.

Respiratory failure and sleep-disordered breathing in late-onset Pompe disease: a narrative review

Neeraj Mukesh Shah  1   2   3 , Lakshya Sharma  1   4 , Santhosh Ganeshamoorthy  1   4 , Georgios Kaltsakas  1   2   3
Affiliations
Review

Respiratory failure and sleep-disordered breathing in late-onset Pompe disease: a narrative review

Neeraj Mukesh Shah et al. J Thorac Dis. 2020 Oct.

Abstract

Late-onset Pompe disease (LOPD) is a rare autosomal recessive glycogen storage disease that results in accumulation of glycogen in muscle cells causing muscular weakness. It causes a progressive proximal myopathy, accompanied by respiratory muscle weakness, which can lead to ventilatory failure. In untreated LOPD, the most common cause of death is respiratory failure. Patients suffering from respiratory compromise may present with symptoms of sleep-disordered breathing (SDB) before overt signs of respiratory failure. Diaphragm weakness leads to nocturnal hypoventilation, which can result in sleep disruption. Both subjective and objective sleep quality can be impaired with associated excessive daytime sleepiness (EDS). Health-related quality of life worsens as sleep disturbance increases. The mainstay of treatment for SDB and respiratory failure in LOPD is non-invasive ventilation (NIV), which aims to ensure adequate ventilation, particularly during sleep, and prevent acute hypercapnic failure. These patients are at risk of acute deterioration due to lower respiratory tract infections; effective secretion clearance and vaccination against common pathogens is an important facet of care. Whilst disease-modifying enzyme replacement therapy (ERT) delays progression of locomotor dysfunction and prolongs life, its effect on respiratory function and SDB remains unclear. There are no data demonstrating the impact of ERT on sleep quality or SDB.

Keywords: Pompe disease; glycogen storage disease type II (GSDII); non-invasive ventilation (NIV); respiratory muscle function; sleep-disordered breathing (SDB); ventilatory failure.

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Conflict of interest statement

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at http://dx.doi.org/10.21037/jtd-cus-2020-007). The series “5th Clinical Update Sleep” was commissioned by the editorial office without any funding or sponsorship. The authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
Cellular processing of glycogen and the role of acid maltase in the conversion of glycogen to intracellular glucose.
Figure 2
Figure 2
The effect of pathophysiological changes of LOPD on load-capacity-drive and their contribution to the development of hypoventilation. LOPD, late-onset Pompe disease.
Figure 3
Figure 3
Components of the multidisciplinary team caring for a patient with LOPD and the roles they perform. LOPD, late-onset Pompe disease.
See this image and copyright information in PMC

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