The natural course for patients with disorders associated with hypoventilation syndromes varies depending on the underlying cause.
Observational data suggest an association between sleep-disordered breathing, especially obstructive sleep apnoea (OSA), and increased risk for stroke, Alzheimer disease, Alzheimer disease-related dementias, Parkinson-disease dementia, and all-cause dementia.[120]Gottesman RF, Lutsey PL, Benveniste H, et al. Impact of sleep disorders and disturbed sleep on brain health: a scientific statement from the American Heart Association. Stroke. 2024 Mar;55(3):e61-76.
https://www.ahajournals.org/doi/full/10.1161/STR.0000000000000453
http://www.ncbi.nlm.nih.gov/pubmed/38235581?tool=bestpractice.com
[121]Titova OE, Yuan S, Baron JA, et al. Sleep-disordered breathing-related symptoms and risk of stroke: cohort study and Mendelian randomization analysis. J Neurol. 2022 May;269(5):2460-8.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9021054
http://www.ncbi.nlm.nih.gov/pubmed/34596745?tool=bestpractice.com
[122]Xie C, Zhu R, Tian Y, et al. Association of obstructive sleep apnoea with the risk of vascular outcomes and all-cause mortality: a meta-analysis. BMJ Open. 2017 Dec 22;7(12):e013983.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770910
http://www.ncbi.nlm.nih.gov/pubmed/29275335?tool=bestpractice.com
[123]Dong JY, Zhang YH, Qin LQ. Obstructive sleep apnea and cardiovascular risk: meta-analysis of prospective cohort studies. Atherosclerosis. 2013 Aug;229(2):489-95.
http://www.ncbi.nlm.nih.gov/pubmed/23684511?tool=bestpractice.com
[124]Tsai MS, Li HY, Huang CG, et al. Risk of alzheimer's disease in obstructive sleep apnea patients with or without treatment: real-world evidence. Laryngoscope. 2020 Sep;130(9):2292-8.
http://www.ncbi.nlm.nih.gov/pubmed/32045010?tool=bestpractice.com
[125]Guay-Gagnon M, Vat S, Forget MF, et al. Sleep apnea and the risk of dementia: a systematic review and meta-analysis. J Sleep Res. 2022 Oct;31(5):e13589.
http://www.ncbi.nlm.nih.gov/pubmed/35366021?tool=bestpractice.com
Obesity hypoventilation syndrome (OHS)
If left untreated, patients with mild OHS have a lower quality of life, increased somnolence, and more severe pulmonary hypertension compared with patients with OSA. Patients with OHS have a higher rate of intensive care unit admission and need for mechanical ventilation than patients with similar degrees of obesity but without OHS.[126]Nowbar S, Burkart KM, Gonzales R, et al. Obesity-associated hypoventilation in hospitalized patients: prevalence, effects, and outcome. Am J Med. 2004;116:1-7.
http://www.ncbi.nlm.nih.gov/pubmed/14706658?tool=bestpractice.com
One study demonstrated higher risk of postoperative respiratory failure and heart failure following elective non-cardiac surgery in patients with OHS with OSA compared with patients with OSA alone.[127]Kaw R, Bhateja P, Mar HP, et al. Postoperative complications in patients with unrecognized obesity hypoventilation syndrome undergoing elective noncardiac surgery. Chest. 2016;149:84-91.
http://www.ncbi.nlm.nih.gov/pubmed/25996642?tool=bestpractice.com
Appropriate early treatment of OHS is associated with reduced morbidity and mortality.[40]Mokhlesi B, Masa JF, Brozek JL, et al. Evaluation and management of obesity hypoventilation syndrome. An official American Thoracic Society clinical practice guideline. Am J Respir Crit Care Med. 2019 Aug 1;200(3):e6-e24.
https://www.atsjournals.org/doi/full/10.1164/rccm.201905-1071ST
http://www.ncbi.nlm.nih.gov/pubmed/31368798?tool=bestpractice.com
[70]Bouloukaki I, Mermigkis C, Michelakis S, et al. The association between adherence to positive airway pressure therapy and long-term outcomes in patients with obesity hypoventilation syndrome: a prospective observational study. J Clin Sleep Med. 2018 Sep 15;14(9):1539-1550.
http://jcsm.aasm.org/ViewAbstract.aspx?pid=31380
http://www.ncbi.nlm.nih.gov/pubmed/30176976?tool=bestpractice.com
[128]Kreivi HR, Itäluoma T, Bachour A. Effect of ventilation therapy on mortality rate among obesity hypoventilation syndrome and obstructive sleep apnoea patients. ERJ Open Res. 2020 May 11;6(2):00101-2019.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7211948
http://www.ncbi.nlm.nih.gov/pubmed/32420312?tool=bestpractice.com
Restrictive thoracic disorders
In many patients with hypoventilation syndrome due to neuromuscular disease, disease progression will eventually affect outcome. However, therapeutic interventions, such as nocturnal non-invasive ventilation, can have a significant effect on survival and quality of life.[49]Lechtzin N, Scott Y, Busse AM, et al. Early use of non-invasive ventilation prolongs survival in subjects with ALS. Amyotroph Lateral Scler. 2007;8:185-188.
http://www.ncbi.nlm.nih.gov/pubmed/17538782?tool=bestpractice.com
[78]Young HK, Lowe A, Fitzgerald DA, et al. Outcome of noninvasive ventilation in children with neuromuscular disease. Neurology. 2007;68:198-201.
http://www.ncbi.nlm.nih.gov/pubmed/17224573?tool=bestpractice.com
[79]Piper AJ, Sullivan CE. Effects of long-term nocturnal nasal ventilation on spontaneous breathing during sleep in neuromuscular and chest wall disorders. Eur Respir J. 1996;9:1515-1522.
http://erj.ersjournals.com/content/9/7/1515.full.pdf+html
http://www.ncbi.nlm.nih.gov/pubmed/8836668?tool=bestpractice.com
[80]Mellies U, Ragette R, Dohna Schwake CD, et al. Longterm noninvasive ventilation in children and adolescents with neuromuscular disorders. Eur Respir J. 2003;22:631-636.
http://erj.ersjournals.com/content/22/4/631.full
http://www.ncbi.nlm.nih.gov/pubmed/14582916?tool=bestpractice.com
[83]Bourke SC, Tomlinson M, Williams TL, et al. Effects of non-invasive ventilation on survival and quality of life in patients with amyotrophic lateral sclerosis: a randomised controlled trial. Lancet Neurol. 2006;5:140-147.
http://www.ncbi.nlm.nih.gov/pubmed/16426990?tool=bestpractice.com
COPD
While disease severity will eventually predict outcome in patients with COPD, nocturnal non-invasive ventilation has been shown to improve gas exchange, sleep quality, and quality of life in these patients.[109]Krachman SL, Quaranta AJ, Berger TJ, et al. Effects of noninvasive positive pressure ventilation on gas exchange and sleep in COPD patients. Chest. 1997 Sep;112(3):623-8.
http://www.ncbi.nlm.nih.gov/pubmed/9315793?tool=bestpractice.com
[110]Jones SE, Packham S, Hebden M, et al. Domiciliary nocturnal intermittent positive pressure ventilation in patients with respiratory failure due to severe COPD: long-term follow-up and effect on survival. Thorax. 1998:53:495-498.
http://www.ncbi.nlm.nih.gov/pubmed/9713450?tool=bestpractice.com
[112]Elliott MW, Simonds AK, Carroll MP, et al. Domiciliary nocturnal nasal intermittent positive pressure ventilation in hypercapnic respiratory failure due to chronic obstructive lung disease: effects on sleep and quality of life. Thorax. 1992;47:342-348.
http://www.ncbi.nlm.nih.gov/pubmed/1609376?tool=bestpractice.com
In addition, studies have noted improved survival in hypercapnic COPD patients who received non-invasive ventilation with oxygen therapy, compared with oxygen therapy alone.[111]McEvoy RD, Pierce JR, Hillman PD, et al. Nocturnal non-invasive nasal ventilation in stable hypercapnic COPD: a randomised controlled trial. Thorax. 2009;64:561-566.
http://www.ncbi.nlm.nih.gov/pubmed/19213769?tool=bestpractice.com
[114]Murphy PB, Rehal S, Arbane G, et al. Effect of home noninvasive ventilation with oxygen therapy vs oxygen therapy alone on hospital readmission or death after an acute COPD exacerbation: a randomized clinical trial. JAMA. 2017 Jun 6;317(21):2177-2186.
https://jamanetwork.com/journals/jama/fullarticle/2627985
http://www.ncbi.nlm.nih.gov/pubmed/28528348?tool=bestpractice.com
Cheyne-Stokes respiration (CSR)
It has been demonstrated that in patients with congestive heart failure, mortality is higher in those with CSR than in those without CSR, despite a similar degree of heart failure.[129]Hanly PJ, Zuberi-Khokhar NS. Increased mortality associated with Cheyne-Stokes respiration in patients with congestive heart failure. Am J Respir Crit Care Med. 1996;153:272-6.
http://www.ncbi.nlm.nih.gov/pubmed/8542128?tool=bestpractice.com
While nocturnal non-invasive ventilation has been shown to improve heart function and significantly improve sleep-disordered breathing, its effect on transplant-free survival remains uncertain.[92]Bradley TD, Logan AG, Kimoff RJ, et al. Continuous positive airway pressure for central sleep apnea and heart failure. N Engl J Med. 2005;353:2025-2033.
http://www.nejm.org/doi/full/10.1056/NEJMoa051001#t=article
http://www.ncbi.nlm.nih.gov/pubmed/16282177?tool=bestpractice.com
[93]Arzt M, Floras JS, Logan AG, et al. Suppression of central sleep apnea by continuous positive airway pressure and transplant-free survival in heart failure. Circulation. 2007 Jun 26;115(25):3173-80.
http://circ.ahajournals.org/content/115/25/3173.full
http://www.ncbi.nlm.nih.gov/pubmed/17562959?tool=bestpractice.com