Obstructive sleep apnea

Obstructive sleep apnea (OSA) is the most common breathing-related sleep disorder and is typically associated with obesity. It is characterized by obstruction of the upper airways due to the collapse of the pharyngeal muscles. OSA results in multiple episodes of interrupted breathing (apnea and hypopnea) during sleep, leading to alveolar hypoventilation. Patients generally suffer from severe daytime sleepiness and impaired cognitive function (e.g., deficits in attention and/or memory) as a result of sleep disruption. Their partners describe restless sleep associated with irregular snoring, gasping, or choking episodes. Diagnosis is based on the assessment of risk factors and polysomnography. Many patients with OSA (> 50%) are affected by secondary hypertension. The cardiovascular consequences of secondary hypertension reduce life expectancy. However, these effects can be counteracted with weight loss and nightly continuous positive airway pressure (CPAP). Other important aspects of management include avoidance of precipitating factors (e.g., alcohol) and improvement of sleep hygiene.

• Obstruction of the upper airways due to the collapse of the pharyngeal muscles during sleep
• Risk factors
  • Obesity, especially around the neck (short, wide “bull neck”)
  • Structural abnormalities that impair respiratory flow: tonsillar hyperplasia, nasal septum deviation, enlarged uvula, tongue, or soft palate; nasal polyps; overbite with a small chin; hypertrophied pharyngeal muscles
  • Alcohol consumption before sleep
  • Intake of sedatives and/or beta-blockers before sleep
  • Smoking
  • Family history
  • Hypothyroidism

Obesity is the most important risk factor for OSA.

References:^[5][3]

• Obstruction of the upper airways → apnea → ↓ partial pressure of oxygen in arterial blood (PaO₂), ↑ partial pressure of carbon dioxide in arterial blood (PaCO₂, also known as hypercapnia)
  • → ↑ Hypoxic pulmonary vasoconstriction → ↑ pulmonary hypertension → cor pulmonale
  • → ↑ Sympathetic activity → secondary hypertension
  • → Respiratory acidosis; → renal compensation; → increased HCO₃ retention and decreased chloride reabsorption

References:^[6][1][7]

• Restless sleep with waking, gasping, or choking
• Loud, irregular snoring with apneic episodes (third-party reports)
• Excessive daytime sleepiness (e.g., patient falls asleep, microsleep during meetings or while watching TV)
• Impaired cognitive function; (e.g., impaired concentration, memory loss)
• Depression, decreased libido

References:^[1][3]

General considerations

• Initial assessment: standardized questionnaires and third-party reports; (interview sleeping partner regarding snoring and respiratory interruptions)
• Laboratory tests are not usually considered useful in the diagnosis of OSA, but may help identify underlying conditions or physiological consequences of OSA.
  • Polycythemia
    • This occurs because hypoxia induces erythropoietin secretion; by the kidneys, which stimulate the blood marrow, leading to increased RBC production.
  • TSH (thyroid-stimulating hormone) may be considered in patients with possible hypothyroidism.

Sleep studies

• Polysomnography: first-line method
  • Parameters measured in addition to those recorded by polygraphy:
    • Brainwaves via electroencephalography (EEG)
    • Eye movements via electrooculography (EOG) → assess REM phases
    • Muscle activity via electromyography (EMG; e.g., with sensors for movements of legs and chin)
    • Electrocardiography (ECG): often not necessary
  • Classic findings
    • Apnea and hypopnea events (AHI > 15)
    • Oxygen desaturation
    • Arousal events on EEG
    • Bradycardia
    • Fragmentation of sleep with pathological reduction of REM-sleep phases and slow-wave sleep
• Home sleep apnea testing (less sensitive): Ambulatory screening method based on the use of a device for monitoring cardiorespiratory parameters during the night.
  • Indicated in patients with a high pretest probability of moderate to severe OSA or when in-laboratory polysomnography is not feasible
    • The following parameters are measured during sleep: respiratory flow, respiratory pauses, saturation of blood with oxygen, heart rate, snoring noises and respiratory movements of the abdomen and thorax. This allows apneas and hypopnea events to be assessed and the AHI to be established.

Obstructive sleep apnea is a very frequent cause of secondary hypertension!

References:^[8][9][1]

Central sleep apnea (CSA) (< 10%)

• Definition: Breathing-related sleep disorder characterized by repetitive cessation or decrease of respiratory effort during sleep due to impaired function of the respiratory center. Airway obstruction is absent.
• Etiology: idiopathic (primary CSA) or caused by an underlying disorder (secondary (CSA)
• Risk factors
  • Age > 65 years
  • Male sex
  • Heart failure
  • Central nervous system disease (e.g., brainstem tumor, stroke)
• Pathophysiology: lack of stimulation to the respiratory center with patent upper airways → periodic lack of respiratory muscle innervation → interruption of thoracic and/or abdominal respiratory movements
• Clinical features
  • Morning headaches
  • Repeated waking at night
  • Daytime sleepiness
  • Snoring
  • Association with OSA is very common
• Diagnosis
  • Based on clinical history (e.g., underlying conditions such as heart failure or stroke)
  • Polysomnography
• Treatment
  • Treat underlying disorder (if present)
  • CPAP

Obesity hypoventilation syndrome (Pickwickian syndrome) :

• Definition: : a breathing disorder that only affects morbidly obese individuals; ; frequently accompanied by OSA, it is characterized by diurnal hypercapnia
• Etiology: morbid obesity
• Risk factors: : identical to those of obesity
• Pathophysiology: ↑ production of CO₂ + sleep disordered breathing (e.g., OSA) + failure of ventilatory compensatory mechanisms → alveolar hypoventilation
• Clinical features
  • Same symptoms as those of OSA
  • Headaches and severe sleepiness
• Diagnostic criteria
  • BMI ≥ 30 kg/m²
  • Arterial blood gasses showing diurnal hypercapnia (PaCO₂ > 45 mm Hg) that cannot not be explained by another condition
  • Polysomnography shows hypoventilation during sleep with or without obstructive apnea events.
• Treatment
  • Weight loss
  • Nasal intermittent positive pressure ventilation

References:^{[10][11][12][13]}

The differential diagnoses listed here are not exhaustive.

• Mild to moderate OSA (mild symptoms and < 20 apneic episodes)

  • Weight loss
  • Reduce and/or avoid risk factors: alcohol, nicotine, sedatives (e.g., benzodiazepines)
  • Sleep hygiene: regular and sufficient sleep
  • Lateral as opposed to supine sleeping position
  • Blood pressure control
  • Oral appliances
• Severe OSA (> 20 apneic episodes and alterations in arterial oxygen saturation)
  • Surgery (uvulopalatopharyngoplasty)
    • Resection of the uvula and redundant retrolingual, soft palate, and tonsillar tissue
    • This procedure should only be considered as a supplementary treatment.
    • Therapeutic option later in the course of severe OSAH. The intervention is very painful and involves temporary but potentially long term (partial) glossectomy trouble swallowing and speaking.
    • Maxillomandibular advancement (MMA)(bimaxillary advancement): advancement of the maxilla and mandible by up to 2 cm, tightening of soft palate and base of the tongue ; highly effective, but complicated
  • Bilevel positive airway pressure (BPAP)
  • Continuous positive airway pressure (CPAP)

Nocturnal positive pressure therapy via CPAP is the therapy of choice in symptomatic OSA. The success of therapy is highly dependent on patient adherence and regular monitoring with sleep studies!
References:^[14][15]

• Hypertension
• Hypoxia-induced cardiac arrhythmia
• Pulmonary hypertension and cor pulmonale
• Global respiratory insufficiency
• Cardiac infarction, stroke, and sudden cardiac death
• Risk of accidents (e.g., car crashes, occupational accidents) due to microsleep
• Increased risk of developing vascular dementia
• Poor sleep leads to increased appetite and obesity.

References:^{[1][16][17][18][19][20]}

We list the most important complications. The selection is not exhaustive.