Patient Phenotyping in OSA
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Purpose of Review
OSA treatment paradigms are evolving from a “one treatment for all” philosophy to personalised therapeutic options based on anatomical and physiological phenotypes. Understanding these different phenotypes will become vital for clinicians as OSA testing and treatment become more targeted.
Phenotyping of the pharynx and upper airway is vital to inform anatomical treatment options such as surgery and mandibular advancement splints. Manipulated CPAP testing allows determination of traits such as arousal threshold, muscular responsiveness and ventilatory control. Targeted therapies of each of these physiological traits have shown promise in selected patients in the research context.
Current treatment paradigms are based on anatomical therapies (CPAP, MAS, surgery); the limitations of which may be particularly evident in patients with physiological contributors to their OSA. Physiological phenotyping is an area of ongoing research into non-anatomical traits which contribute to airway obstruction.
KeywordsObstructive sleep apnoea Phenotypes CPAP Surgery Endoscopy Upper airway Polysomnography
Compliance with Ethical Standards
Conflict of Interest
Dr. Kitipornchai and Dr. Jones declare that they have no conflict of interest. Dr. MacKay reports non-financial support from Genio-Nyxoah Hypoglossal nerve stimulator, grants from NH&MRC, grants from Garnett Passe conjoint grant, outside the submitted work.
Human and Animal Rights and Informed Consent
This article does not contain any studies with human or animal subjects performed by any of the authors.
Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance
- 1.•• Carberry JC, Amatoury J, Eckert DJ. Personalized management approach for OSA. Chest. 2017. https://doi.org/10.1016/j.chest.2017.06.011 Provides a summary of evidence for currently available treatment options based on physiological phenotype.
- 3.•• Eckert DJ, White DP, Jordan AS, Malhotra A, Wellman A. Defining phenotypic causes of obstructive sleep apnea. Identification of novel therapeutic targets. Am J Respir Crit Care Med. 2013;188:996–1004 This study describes the techniques of physiological phenotyping as well as the relative prevalence of each phenotype.CrossRefGoogle Scholar
- 4.• Pack AI. Application of personalized, predictive, preventative, and participatory (P4) medicine to obstructive sleep apnea. A roadmap for improving care? Ann Am Thorac Soc. 2016;13:1456–67 Explores the P4 approach to OSA as well as anatomical, physiological and genetic contributions to disease. CrossRefGoogle Scholar
- 5.•• Wellman A, Edwards BA, Sands SA, Owens RL, Nemati S, Butler J, et al. A simplified method for determining phenotypic traits in patients with obstructive sleep apnea. J Appl Physiol (Bethesda, Md : 1985). 2013;114:911–22 Describes the manipulated CPAP technique of physiological phenotypic testing. CrossRefGoogle Scholar
- 14.Koch H, Schneider L, Finn LA, Leary EB, Peppard PE, Hagen E, et al. Breathing disturbances without hypoxia are associated with objective sleepiness in sleep apnea. Sleep. 2017;40. https://doi.org/10.1093/sleep/zsx152.
- 22.• Friedman M, Lapatas A, Bonzelaar LB. Updated Friedman staging system for obstructive sleep apnea. Adv Otorhinolaryngol. 2017;80:41–8 Describes the updated Friedman staging for transoral assessment. Google Scholar
- 23.Young T, Shahar E, Nieto FJ, Redline S, Newman AB, Gottlieb DJ, Walsleben JA, Finn L, Enright P, Samet JM. Predictors of sleep-disordered breathing in community-dwelling adults: the Sleep Heart Health Study. Arch Intern Med. 2002;162:893–900Google Scholar
- 26.•• Choi J, Cho S, Kim S-N, Suh JD, Cho J. Predicting outcomes after uvulopalatopharyngoplasty for adult obstructive sleep apnea. Otolaryngol Head Neck Surg. 2016;155:904–13 This meta-analysis summarises the current anatomical predictors for positive outcomes following upper airway surgery. CrossRefGoogle Scholar
- 34.Vanderveken OM, Maurer JT, Hohenhorst W, Hamans E, Lin H-SS, Vroegop AV, et al. Evaluation of drug-induced sleep endoscopy as a patient selection tool for implanted upper airway stimulation for obstructive sleep apnea. J Clin Sleep Med. 2013;9:433–8.Google Scholar
- 47.Landry SA, Joosten SA, Eckert DJ, Jordan AS, Sands SA, White DP, et al. Therapeutic CPAP level predicts upper airway collapsibility in patients with obstructive sleep apnea. Sleep. 2017;40(6). https://doi.org/10.1093/sleep/zsx056.
- 49.• Pham LV, Schwartz AR. The pathogenesis of obstructive sleep apnea. J Thorac Dis. 2015;7:1358–72 Provides a thorough summary of current understanding of OSA pathophysiology. Google Scholar
- 51.Horner R, Innes J, Morrell M, Shea S, Guz A. The effect of sleep on reflex genioglossus muscle activation by stimuli of negative airway pressure in humans. J Physiol. 1994;476:141–51.Google Scholar
- 55.Woodson B, Strohl KP, Soose RJ, et al. Upper airway stimulation for obstructive sleep apnea: 5-year outcomes. Otolaryngol Head Neck Surg. 2018;194599818762383.Google Scholar
- 56.Schwab RJ, Wang SH, Verbraecken J, Vanderveken OM, de Heyning P, Vos WG, et al. Anatomic predictors of response and mechanism of action of upper airway stimulation therapy in patients with obstructive sleep apnea. Sleep. 2018;41. https://doi.org/10.1093/sleep/zsy021.
- 62.Eckert DJ, Owens RL, Kehlmann GB, Wellman A, Rahangdale S, Yim-Yeh S, et al. Eszopiclone increases the respiratory arousal threshold and lowers the apnoea/hypopnoea index in obstructive sleep apnoea patients with a low arousal threshold. Clin Sci (London, England : 1979). 2011;120:505–14.CrossRefGoogle Scholar
- 64.Eckert D, Malhotra A, Wellman A, Sleep WD (2014) Trazodone increases the respiratory arousal threshold in patients with obstructive sleep apnea and a low arousal threshold. https://doi.org/10.5665/sleep.3596.
- 68.Joosten SA, Leong P, Landry SA, Sands SA, Terrill PI, Mann D, et al. Loop gain predicts the response to upper airway surgery in patients with obstructive sleep apnoea. Sleep. 2017;40. https://doi.org/10.1093/sleep/zsx094.