Personalised medicine in sleep respiratory disorders: focus on obstructive sleep apnoea diagnosis and treatment

Abstract

In all fields of medicine, major efforts are currently dedicated to improve the clinical, physiological and therapeutic understanding of disease, and obstructive sleep apnoea (OSA) is no exception. The personalised medicine approach is relevant for OSA, given its complex pathophysiology and variable clinical presentation, the interactions with comorbid conditions and its possible contribution to poor outcomes. Treatment with continuous positive airway pressure (CPAP) is effective, but CPAP is poorly tolerated or not accepted in a considerable proportion of OSA patients. This review summarises the available studies on the physiological phenotypes of upper airway response to obstruction during sleep, and the clinical presentations of OSA (phenotypes and clusters) with a special focus on our changing attitudes towards approaches to treatment. Such major efforts are likely to change and expand treatment options for OSA beyond the most common current choices (i.e CPAP, mandibular advancement devices, positional treatment, lifestyle changes or upper airway surgery). More importantly, treatment for OSA may become more effective, being tailored to each patient's need.

FIGURE 1

The complexity of obstructive sleep apnoea (OSA) for consideration in a personalised medicine approach. PSG: polysomnography; GWA: genome-wide association; EDS: excessive daytime sleepiness; PALM: P_crit (passive critical closing pressure), arousal threshold, loop gain and muscle responsiveness; CCC: complete concentric palatal collapse; IL: interleukin; HTN: systemic hypertension. Reproduced and modified from [18] with permission.

FIGURE 2

The PALM (P_crit (passive critical closing pressure), arousal threshold, loop gain and muscle responsiveness) scale approach to personalise obstructive sleep apnoea (OSA) treatment. Therapeutic interventions can be chosen according to the physiological phenotype of each patient. CPAP: continuous positive airway pressure; MAS: mandibular advancement splint; HNS: hypoglossal nerve stimulation. Reproduced and modified from [42] with permission.