Obstructive Sleep Apnea: Mechanisms, Clinical Phenotypes, and Precision Management

Objective: To review current evidence regarding the epidemiology, pathophysiology, molecular mechanisms, clinical phenotypes, systemic consequences, diagnostic approaches, and therapeutic strategies of obstructive sleep apnea (OSA), with emphasis on precision medicine.

Methods: A narrative review of the contemporary literature was conducted focusing on epidemiological data, pathophysiological mechanisms, molecular pathways, phenotypic and endotypic classification, diagnostic methodologies, and emerging therapeutic approaches.

Results: OSA is a highly prevalent and underdiagnosed disorder affecting approximately 936 million adults worldwide. The disease results from the interaction of anatomical susceptibility, impaired upper airway neuromuscular control, ventilatory instability, altered arousal threshold, and reduced lung volumes. Intermittent hypoxia contributes to oxidative stress, systemic inflammation, sympathetic activation, and endothelial dysfunction, leading to cardiovascular, metabolic, and neurocognitive complications. Recent phenotypic and endotypic approaches have improved understanding of disease heterogeneity and support individualized treatment strategies.

Conclusion: OSA is a complex multisystem disorder extending beyond sleep-related breathing abnormalities. Precision medicine approaches integrating clinical phenotypes and physiological endotypes may improve diagnostic assessment, treatment selection, adherence, and long-term outcomes.

Keywords: Obstructive Sleep Apnea, Sleep Apnea Syndromes, Precision Medicine, Continuous Positive Airway Pressure, Hypoxia, Phenotype.