Sleep-Disordered Breathing: Key Pathophysiological Mechanisms and Their Clinical Implications

Sleep-disordered breathing (SDB) encompasses a spectrum of conditions characterized by abnormal respiratory patterns during sleep. These disorders include obstructive sleep apnea (OSA), central sleep apnea (CSA), hypoventilation syndromes, primary snoring, and upper airway resistance syndrome (UARS). These disorders disrupt normal sleep architecture, contributing to sleep fragmentation, impaired daytime function, and significant cardiometabolic morbidity. This review synthesizes current understanding of the physiologic mechanisms underlying SDB, beginning with normal sleep regulation and extending to disease-specific pathophysiology. By integrating pathophysiological mechanisms with their clinical implications, this review provides a comprehensive framework for understanding disease heterogeneity and progression. The goal of this review is to provide clinicians with the resources to inform more precise diagnoses, patient classifications, and treatment strategies for sleep-disordered breathing. OSA is characterized by repetitive upper airway collapse, which can be further characterized by emerging phenotypes and endotypes that highlight heterogeneity in the clinical presentation and polysomnographic features. CSA, in contrast, results from diminished or absent respiratory drive and is frequently associated with heightened chemoreflex sensitivity and ventilatory instability. Obesity hypoventilation syndrome represents a severe form of SDB marked by impaired respiratory mechanics, reduced lung compliance, and blunted ventilatory drive, partly mediated by leptin resistance. Primary snoring and Upper Airway Resistance syndrome exist along a continuum of increasing airway resistance and collapsibility, with emerging evidence suggesting these conditions may not be entirely benign. Additionally, there may be overlaps between diagnoses with patients meeting the criteria for multiple. Classification of SDB has evolved through integration of clinical features, polysomnographic parameters, and pathophysiologic mechanisms.