FV 8. Sleep-disordered breathing and effects of non-invasive ventilation on sleep outcomes in adult Pompe disease

Abstract

In juvenile or adult onset Pompe disease, non-invasive ventilation (NIV) is indicated if sleep-disordered breathing (SDB), daytime hypercapnia, or significant diaphragmatic weakness is present. We investigated both short-term and long-term effects of NIV on measures of sleep and nocturnal ventilation in patients with late-onset Pompe disease. Polysomnography (PSG) and transcutaneous capnography were performed in 22 adult patients with late-onset Pompe disease. If indicated, NIV was initiated the subsequent night and long-term follow-up visits were scheduled for up to 28 months including PSG and nocturnal carbon dioxide monitoring. Retrospective data analysis comprised PSG-based sleep and ventilation outcome measures. Daytime performance, subjective sleep quality, and health-related quality of life (HRQoL) were self-assessed using standard questionnaires. 22 patients (12 females) initially underwent detailed sleep studies. Enzyme replacement therapy had been initiated in 18 individuals, and 3 patients were treatment-naïve. 9 patients reported excessive daytime sleepiness (Epworth Sleepiness Scale score > 10), 8 patients had obstructive sleep apnea with an apnea hypopnea index above 5/h total sleep time, 3 patients showed daytime hypercapnia, and 4 individuals showed nocturnal increase of transcutaneous tcCO2 above 50 mmHg. In patients with SDB, HRQoL and both subjective and objective sleep quality were significantly reduced, the latter reflected by frequent sleep stage changes and decreased slow wave sleep. NIV was initiated in 15 patients and significantly increased mean and minimal oxygen saturation, shortened desaturation time, and enhanced CO2 elimination. Sleep outcomes were not significantly influenced in the first night on NIV but on first follow-up after three months nocturnal wake time was significantly decreased. During long-term follow-up sleep studies revealed stable normoxia and normocapnia in all patients receiving nighttime ventilatory support. Objective measures of sleep quality did not show deterioration over time. Alterations to ventilator settings were necessary only in few patients. NIV significantly improves objective sleep quality and respiration in the first night of treatment in adult patients with late-onset Pompe disease and SDB. NIV warrants nocturnal normoventilation without deterioration of sleep quality in the long run with only minor changes to ventilator settings.