Clinical presentation and diagnosis of obstructive sleep apnea in adults
- Lewis R Kline, MD
Lewis R Kline, MD
- Associate Professor of Medicine
- Temple University School of Medicine
Obstructive sleep apnea (OSA) is a disorder that is characterized by obstructive apneas and hypopneas caused by repetitive collapse of the upper airway during sleep. The diagnosis should be considered whenever a patient presents with symptoms such as excessive daytime sleepiness, snoring, and choking or gasping during sleep, particularly in the presence of risk factors such as obesity, male gender, and advanced age. The challenge is to select the patients who are most likely to have OSA for further diagnostic evaluation, since expensive and time consuming testing has traditionally been required to identify OSA.
The clinical presentation, clinical features, diagnostic approach, and differential diagnosis of OSA are reviewed here. The epidemiology, risk factors, pathogenesis, natural history, and management of OSA are described separately. (See "Overview of obstructive sleep apnea in adults" and "Management of obstructive sleep apnea in adults".)
Clinical presentation — Most patients with OSA first come to the attention of a clinician because the patient complains of daytime sleepiness, or the bed partner reports loud snoring, gasping, snorting, or interruptions in breathing while sleeping. These symptoms may be presenting complaints, reported during the evaluation of another complaint, detected during health maintenance screening, or reported during preoperative screening. Regardless of how the complaints are identified, all patients who report daytime sleepiness or snoring, gasping, snorting, or interruptions in breathing while sleeping, should be asked about and examined for other features of OSA. This information is important for determining which patients require diagnostic testing.
Signs and symptoms — Daytime sleepiness, distinct from fatigue, is a common feature of OSA. Sleepiness is the inability to remain fully awake or alert during the wakefulness portion of the sleep-wake cycle, while fatigue is a subjective lack of physical or mental energy that is perceived by the individual or caregiver to interfere with usual and desired activities . It is often unclear whether a patient's complaint of daytime sleepiness represents true sleepiness or fatigue. In such cases, series of directed questions can be combined with the Epworth Sleepiness Scale to quantitatively document the patient’s perception of sleepiness, fatigue, or both (table 1 and table 2) [2,3]. (See "Approach to the patient with excessive daytime sleepiness", section on 'History'.)
Daytime sleepiness may go unnoticed or its significance may be underestimated because of its insidious onset and chronicity. The patient may not describe the symptom as sleepiness, but may use other terms, such as fatigue, tiredness, and low energy . Careful questioning of the patient typically reveals a pattern of feeling sleepy or falling asleep in boring, passive, or monotonous situations. As an example, the patient may admit to consistently falling asleep while reading, watching television, or even while operating a motor vehicle. In addition, embarrassing or inappropriate episodes of sleep (eg, at religious services, while driving) may be reported. Reviewing patient behavior away from the workplace is essential because daytime sleepiness can be masked by activity. Patients should always be asked about behaviors that may mask sleepiness, such as caffeine consumption.
- Multiple Sclerosis Council for Clinical Practice Guidelines. Fatigue and multiple sclerosis: evidence-based management strategies for fatigue in multiple sclerosis. Washington, DC, Paralyzed Veterans of America, 1998.
- Johns MW. Daytime sleepiness, snoring, and obstructive sleep apnea. The Epworth Sleepiness Scale. Chest 1993; 103:30.
- Hossain JL, Ahmad P, Reinish LW, et al. Subjective fatigue and subjective sleepiness: two independent consequences of sleep disorders? J Sleep Res 2005; 14:245.
- Chervin RD. Sleepiness, fatigue, tiredness, and lack of energy in obstructive sleep apnea. Chest 2000; 118:372.
- Myers KA, Mrkobrada M, Simel DL. Does this patient have obstructive sleep apnea?: The Rational Clinical Examination systematic review. JAMA 2013; 310:731.
- Subramanian S, Guntupalli B, Murugan T, et al. Gender and ethnic differences in prevalence of self-reported insomnia among patients with obstructive sleep apnea. Sleep Breath 2011; 15:711.
- Bajwah S, Ross JR, Wells AU, et al. Palliative care for patients with advanced fibrotic lung disease: a randomised controlled phase II and feasibility trial of a community case conference intervention. Thorax 2015; 70:830.
- Russell MB, Kristiansen HA, Kværner KJ. Headache in sleep apnea syndrome: epidemiology and pathophysiology. Cephalalgia 2014; 34:752.
- Neau JP, Paquereau J, Bailbe M, et al. Relationship between sleep apnoea syndrome, snoring and headaches. Cephalalgia 2002; 22:333.
- Goksan B, Gunduz A, Karadeniz D, et al. Morning headache in sleep apnoea: clinical and polysomnographic evaluation and response to nasal continuous positive airway pressure. Cephalalgia 2009; 29:635.
- Wallace A, Bucks RS. Memory and obstructive sleep apnea: a meta-analysis. Sleep 2013; 36:203.
- Margel D, Shochat T, Getzler O, et al. Continuous positive airway pressure reduces nocturia in patients with obstructive sleep apnea. Urology 2006; 67:974.
- Miyauchi Y, Okazoe H, Okujyo M, et al. Effect of the continuous positive airway pressure on the nocturnal urine volume or night-time frequency in patients with obstructive sleep apnea syndrome. Urology 2015; 85:333.
- Wheaton AG, Perry GS, Chapman DP, Croft JB. Sleep disordered breathing and depression among U.S. adults: National Health and Nutrition Examination Survey, 2005-2008. Sleep 2012; 35:461.
- Shah MA, Feinberg S, Krishnan E. Sleep-disordered breathing among women with fibromyalgia syndrome. J Clin Rheumatol 2006; 12:277.
- Gilani S, Quan SF, Pynnonen MA, Shin JJ. Obstructive Sleep Apnea and Gastroesophageal Reflux: A Multivariate Population-Level Analysis. Otolaryngol Head Neck Surg 2016; 154:390.
- Legro RS, Arslanian SA, Ehrmann DA, et al. Diagnosis and treatment of polycystic ovary syndrome: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2013; 98:4565.
- Young T, Palta M, Dempsey J, et al. The occurrence of sleep-disordered breathing among middle-aged adults. N Engl J Med 1993; 328:1230.
- Bixler EO, Vgontzas AN, Lin HM, et al. Prevalence of sleep-disordered breathing in women: effects of gender. Am J Respir Crit Care Med 2001; 163:608.
- Bixler EO, Vgontzas AN, Ten Have T, et al. Effects of age on sleep apnea in men: I. Prevalence and severity. Am J Respir Crit Care Med 1998; 157:144.
- Epstein LJ, Kristo D, Strollo PJ Jr, et al. Clinical guideline for the evaluation, management and long-term care of obstructive sleep apnea in adults. J Clin Sleep Med 2009; 5:263.
- Kales A, Cadieux RJ, Bixler EO, et al. Severe obstructive sleep apnea--I: Onset, clinical course, and characteristics. J Chronic Dis 1985; 38:419.
- Friedman M, Hamilton C, Samuelson CG, et al. Diagnostic value of the Friedman tongue position and Mallampati classification for obstructive sleep apnea: a meta-analysis. Otolaryngol Head Neck Surg 2013; 148:540.
- Stradling JR, Crosby JH. Predictors and prevalence of obstructive sleep apnoea and snoring in 1001 middle aged men. Thorax 1991; 46:85.
- Carmelli D, Swan GE, Bliwise DL. Relationship of 30-year changes in obesity to sleep-disordered breathing in the Western Collaborative Group Study. Obes Res 2000; 8:632.
- Sajkov D, Cowie RJ, Thornton AT, et al. Pulmonary hypertension and hypoxemia in obstructive sleep apnea syndrome. Am J Respir Crit Care Med 1994; 149:416.
- Minai OA, Ricaurte B, Kaw R, et al. Frequency and impact of pulmonary hypertension in patients with obstructive sleep apnea syndrome. Am J Cardiol 2009; 104:1300.
- Abrishami A, Khajehdehi A, Chung F. A systematic review of screening questionnaires for obstructive sleep apnea. Can J Anaesth 2010; 57:423.
- Chung F, Yegneswaran B, Liao P, et al. STOP questionnaire: a tool to screen patients for obstructive sleep apnea. Anesthesiology 2008; 108:812.
- Flemons WW, Whitelaw WA, Brant R, Remmers JE. Likelihood ratios for a sleep apnea clinical prediction rule. Am J Respir Crit Care Med 1994; 150:1279.
- Grover M, Mookadam M, Chang YH, Parish J. Validating the Diagnostic Accuracy of the Sleep Apnea Clinical Score for Use in Primary Care Populations. Mayo Clin Proc 2016; 91:469.
- Netzer NC, Stoohs RA, Netzer CM, et al. Using the Berlin Questionnaire to identify patients at risk for the sleep apnea syndrome. Ann Intern Med 1999; 131:485.
- Marti-Soler H, Hirotsu C, Marques-Vidal P, et al. The NoSAS score for screening of sleep-disordered breathing: a derivation and validation study. Lancet Respir Med 2016; 4:742.
- Viner S, Szalai JP, Hoffstein V. Are history and physical examination a good screening test for sleep apnea? Ann Intern Med 1991; 115:356.
- Hoffstein V, Szalai JP. Predictive value of clinical features in diagnosing obstructive sleep apnea. Sleep 1993; 16:118.
- Qaseem A, Dallas P, Owens DK, et al. Diagnosis of obstructive sleep apnea in adults: a clinical practice guideline from theAmerican College of Physicians. Ann Intern Med 2014; 161:210.
- Meyer TJ, Eveloff SE, Kline LR, Millman RP. One negative polysomnogram does not exclude obstructive sleep apnea. Chest 1993; 103:756.
- Ahmadi N, Shapiro GK, Chung SA, Shapiro CM. Clinical diagnosis of sleep apnea based on single night of polysomnography vs. two nights of polysomnography. Sleep Breath 2009; 13:221.
- Levendowski DJ, Zack N, Rao S, et al. Assessment of the test-retest reliability of laboratory polysomnography. Sleep Breath 2009; 13:163.
- Collop NA, Anderson WM, Boehlecke B, et al. Clinical guidelines for the use of unattended portable monitors in the diagnosis of obstructive sleep apnea in adult patients. Portable Monitoring Task Force of the American Academy of Sleep Medicine. J Clin Sleep Med 2007; 3:737.
- Rosen CL, Auckley D, Benca R, et al. A multisite randomized trial of portable sleep studies and positive airway pressure autotitration versus laboratory-based polysomnography for the diagnosis and treatment of obstructive sleep apnea: the HomePAP study. Sleep 2012; 35:757.
- Collop NA, Tracy SL, Kapur V, et al. Obstructive sleep apnea devices for out-of-center (OOC) testing: technology evaluation. J Clin Sleep Med 2011; 7:531.
- Kauta SR, Keenan BT, Goldberg L, Schwab RJ. Diagnosis and treatment of sleep disordered breathing in hospitalized cardiac patients: a reduction in 30-day hospital readmission rates. J Clin Sleep Med 2014; 10:1051.
- American Academy of Sleep Medicine. International Classification of Sleep Disorders, 3rd ed, American Academy of Sleep Medicine, Darien, IL 2014.
- Cooksey JA, Balachandran JS. Portable Monitoring for the Diagnosis of OSA. Chest 2016; 149:1074.
- Wittine LM, Olson EJ, Morgenthaler TI. Effect of recording duration on the diagnostic accuracy of out-of-center sleep testing for obstructive sleep apnea. Sleep 2014; 37:969.
- Black JE, Brooks SN, Nishino S. Conditions of primary excessive daytime sleepiness. Neurol Clin 2005; 23:1025.
- Pépin JL, Guillot M, Tamisier R, Lévy P. The upper airway resistance syndrome. Respiration 2012; 83:559.
- Guilleminault C, Stoohs R, Clerk A, et al. A cause of excessive daytime sleepiness. The upper airway resistance syndrome. Chest 1993; 104:781.
- Guilleminault C, Stoohs R, Kim YD, et al. Upper airway sleep-disordered breathing in women. Ann Intern Med 1995; 122:493.
- Tawk M, Goodrich S, Kinasewitz G, Orr W. The effect of 1 week of continuous positive airway pressure treatment in obstructive sleep apnea patients with concomitant gastroesophageal reflux. Chest 2006; 130:1003.
- Nesbitt AD, Kosky CA, Leschziner GD. Insular seizures causing sleep-related breathlessness. Lancet 2013; 382:1756.
- CLINICAL FEATURES
- Clinical presentation
- Signs and symptoms
- Physical examination
- Screening questionnaires
- INDICATIONS FOR DIAGNOSTIC TESTING
- DIAGNOSTIC TESTS
- Home sleep apnea testing
- DISEASE SPECTRUM
- DIFFERENTIAL DIAGNOSIS
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS