Phenotyping the pathophysiology of obstructive sleep apnea using polygraphy/polysomnography: a review of the literature

Sleep Breath. 2018 Sep;22(3):579-592. doi: 10.1007/s11325-017-1613-3. Epub 2018 Jan 9.


Continuous positive airway pressure (CPAP) is the first-line treatment for the majority of patients affected by obstructive sleep apnea syndrome (OSA). However, long-term compliance with CPAP therapy may result limited and alternatives to CPAP therapy are required to address the increasing need to provide tailored therapeutic options. Understanding the pathophysiological traits (PTs) of OSA patients [upper airway (UA) anatomical collapsibility, loop gain (LG), arousal threshold (AT), and UA gain (UAG)] lies at the heart of the customized OSA treatment. However, sleep research laboratories capable to phenotype OSA patients are sparse and the diagnostic procedures time-consuming, costly, and requiring significant expertise. The question arises whether the use of routine clinical polysomnography or nocturnal portable multi-channel monitoring (PSG/PM) can provide sufficient information to characterize the above traits. The aim of the present review is to deduce if the information obtainable from the clinical PSG/PM analysis, independently of the scope and context of the original studies, is clinically useful to define qualitatively the PTs of individual OSA patients. In summary, it is possible to identify four patterns using PSG/PM that are consistent with an altered UA collapsibility, three that are consistent with altered LG, two with altered AT, and three consistent with flow limitation/UA muscle response. Furthermore, some PSG/PM indexes and patterns, useful for the suitable management of OSA patient, have been discussed. The delivery of this clinical approach to phenotype pathophysiological traits will allow patients to benefit in a wider range of sleep services by facilitating tailored therapeutic options.

Keywords: Clinical PSG/PM analysis; Customized OSA therapy; Obstructive sleep apnea syndrome; Pathophysiologic trait.

Publication types

  • Review

MeSH terms

  • Arousal
  • Humans
  • Phenotype*
  • Polysomnography*
  • Precision Medicine
  • Sleep
  • Sleep Apnea, Obstructive / diagnosis*
  • Sleep Apnea, Obstructive / physiopathology*
  • Sleep Apnea, Obstructive / therapy