Obstructive Sleep Apnea

The primary cause of OSA is a small or unstable pharyngeal airway. This condition can be
caused by soft tissue factors, such as upper body obesity or tonsillar hypertrophy (rare in adults), and
skeletal factors, such as a small or recessed chin. During the waking state, pharyngeal patency is
maintained by increased activity of the upper airway dilator muscles. Sleep onset is associated with a
decrease in the activity of these muscles. The result is airway narrowing or closure of airways that are
at risk. In an unstable upper airway, narrowing and closure during sleep frequently involves multiple
sites. Partial or complete closure of the upper airway during sleep is associated with a number of
serious neurobehavioral, metabolic, and cardiopulmonary consequences.

Adverse Consequences of Obstructive Sleep Apnea:

CARDIOPULMONARY
• Nocturnal arrhythmia
• Diurnal hypertension
• Pulmonary hypertension
• Right or left ventricular failure
• Myocardial infarction
• Stroke
NEUROBEHAVIORAL
• Excessive daytime sleepiness
• Diminished quality of life
• Adverse personality change
• Motor vehicle accidents
METABOLIC
• Insulin resistance
• Altered lipid metabolism

Compared with the general population, patients with untreated OSA have an increased risk for
systemic and pulmonary hypertension, stroke, nocturnal arrhythmia, heart failure, and myocardial
infarction. The repetitive cycle of upper airway closure and opening during sleep is believed to have
effects on the autonomic nervous system—specifically, an increase in sympathetic tone. These
effects are caused in part by recurrent episodes of hypoxemia and hypercapnia that are due to airway
closure and hypoventilation that can occur throughout the night in patients with OSA. The arousals
and microarousals during sleep also play an important role in the increase in sympathetic tone. Over
time, increased sympathetic tone may result in systemic hypertension and modest pulmonary
hypertension.

Patients with OSA may develop right ventricular hypertrophy and right heart failure if they are
not treated. Obesity, especially of the upper body, has been found to correlate positively with the
presence of OSA. In most instances, patients with OSA are obese with a large amount of
peripharyngeal adipose tissue along with adipose tissue in the neck. A body mass index greater than
28 (>120% of ideal body weight normalized for height) should alert the practitioner to the possibility of
OSA, particularly if the patient has excessive daytime sleepiness.

Patients who are of normal body weight can be predisposed to OSA if they have an abnormal
craniofacial configuration. Men may grow a beard to disguise such a craniofacial abnormality. If the
chin is recessed (retrognathic) or small (micrognathic), the upper airway space may be narrow, and
the risk for airway closure during sleep increases. Patients with a deviated nasal septum or trauma to
the nasal passages may be predisposed to upper airway closure during sleep as a result of the
increased resistive load to the upper airway. An isolated nasal abnormality is an unusual cause of
OSA.
OSA also can have a genetic predisposition. There have been reports of families in which
obesity alone does not explain the increased prevalence of OSA. It has been postulated that
craniofacial abnormalities and defects in ventilatory control explain the increased frequency of OSA in
these families.

Central Sleep Apnea

Patients have a ventilatory pattern known as periodic breathing, in which there is a waxing and
waning of respiratory drive, which is reflected clinically as an increase and then a decrease in
respiratory rate and tidal volume (VT). Cheyne-Stokes respiration, which often occurs in patients with
congestive heart failure or stroke, is a severe type of periodic breathing characterized by a
crescendo-decrescendo pattern of hyperpnea alternating with apnea. After apnea occurs, there may
be an increase in central ventilatory drive and an increase in VT.

Overlap Syndrome

Some patients with chronic obstructive pulmonary disease (COPD) have coexisting OSA. This
combination is referred to as overlap syndrome. Patients are usually obese and have a history of
smoking. They have moderate to severe nocturnal oxyhemoglobin desaturation secondary to both
OSA and COPD. The worst desaturation values occur during rapid eye movement (REM) sleep and
are related to the loss of accessory muscle use encountered in this physiologic state. Patients with
overlap syndrome tend to have a worse prognosis and more severe blood gas abnormalities than
patients with the same degree of OSA but without COPD. They may arrive in the intensive care unit
with a “COPD exacerbation” and decompensated right heart failure. Undiagnosed OSA complicates
the course at night with arousals, increased dyspnea, and O2 desaturation values resistant to
supplemental O2.

Hypoventilation Syndromes

Patients with neuromuscular disorders such as amyotrophic lateral sclerosis (ALS) or muscular
dystrophy, obesity hypoventilation syndrome, and spinal cord injury with diaphragm dysfunction may
have underlying restrictive lung physiology. These patients may benefit from early detection of sleep
related hypoventilation. Treatment with nocturnal noninvasive ventilation may result in improved
breathing during sleep, as well as better daytime energy and quality of life. Alternative therapies such
as placement of a diaphragm pacer also may benefit a select subset of these patients.