Obstructive Sleep Apnea Endophenotypes

Abstract

Obstructive sleep apnea (OSA) is a common disorder with major neurocognitive and cardiometabolic consequences. It is now recognized as a heterogeneous disease with multiple different underlying mechanisms (endotypes) as well as variable clinical expression of disease (phenotypes). The importance of this variability is emphasized since one variable in isolation typically explains only a fraction of the variance in OSA occurrence. This review provides an update of what is known regarding OSA heterogeneity. The importance of OSA endotypes is discussed in the context of how mechanism might affect disease management and/or design of subsequent randomized trials. Further research is recommended to provide further validation of OSA endophenotypes and how this information may influence clinical management in the future.

Keywords: arousal; hypoxemia; lung; sleep.

Fig. 1Abbreviations:

A figure illustrating the various mechanisms underlying obstructive sleep apnea (OSA) as well as key clinical pearls regarding potential manipulation of each of these traits. There are complex interactions between the various traits that are not fully depicted in this figure. CBTI, cognitive behavioral therapy for insomnia; CSA, central sleep apnea; NIPPV, non-invasive positive pressure ventilation; OSA, obstructive sleep apnea; PAP, positive airway pressure.