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 apnea (OSA), and increased risk for stroke, Alzheimer disease, Alzheimer disease-related dementias, Parkinson disease dementia, and all-cause dementia.[122]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
[123]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
[124]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
[125]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
[126]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
[127]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 ICU admission and need for mechanical ventilation than patients with similar degrees of obesity but without OHS.[128]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 noncardiac surgery in patients with OHS with OSA compared with patients with OSA alone.[129]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
[71]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
[130]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 noninvasive ventilation, can have a significant effect on survival and quality of life.[50]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
[79]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
[80]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
[81]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
[84]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 noninvasive ventilation has been shown to improve gas exchange, sleep quality, and quality of life in these patients.[110]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
[111]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
[113]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 noninvasive ventilation with oxygen therapy, compared with oxygen therapy alone.[112]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
[115]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.[131]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 noninvasive ventilation has been shown to improve heart function and significantly improve sleep-disordered breathing, its effect on transplant-free survival remains uncertain.[93]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
[94]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