Sleep Disorders in Internal Medicine: A Clinical Review for the Practicing Physician
Sleep Disorders in Internal Medicine: A Clinical Review for the Practicing Physician
Abstract
Sleep disorders represent a significant yet frequently underdiagnosed constellation of conditions encountered in internal medicine practice. With approximately 50-70 million Americans affected by chronic sleep disorders, internists serve as frontline clinicians in recognition, evaluation, and management of these conditions. This review synthesizes current evidence on common sleep disorders, emphasizing practical clinical approaches, diagnostic pearls, and therapeutic strategies relevant to postgraduate internal medicine trainees and practitioners.
Introduction
Sleep constitutes approximately one-third of human life, yet its disorders remain substantially underrecognized in clinical practice. The International Classification of Sleep Disorders (ICSD-3) recognizes over 60 distinct sleep disorders, though several predominate in internal medicine settings. The economic burden exceeds $400 billion annually in the United States alone, encompassing direct medical costs, lost productivity, and accident-related expenses. More critically, untreated sleep disorders significantly increase cardiovascular morbidity, metabolic dysfunction, neurocognitive decline, and all-cause mortality.
This review addresses the most prevalent sleep disorders encountered by internists: obstructive sleep apnea (OSA), insomnia disorder, restless legs syndrome (RLS), circadian rhythm disorders, and central disorders of hypersomnolence, with emphasis on history-taking nuances that distinguish these conditions.
Obstructive Sleep Apnea: Beyond the Obvious
Clinical Presentation and Historical Clues
OSA affects approximately 9-38% of the general population, with higher prevalence in men and postmenopausal women. While the classic triad of snoring, witnessed apneas, and daytime sleepiness is well-recognized, internists must appreciate subtler presentations.
Pearl 1: The "STOP-BANG" questionnaire (Snoring, Tiredness, Observed apnea, blood Pressure elevation, BMI >35, Age >50, Neck circumference >40cm, male Gender) demonstrates 93% sensitivity for moderate-to-severe OSA when ≥5 criteria are present, making it invaluable for screening in busy clinical settings.
Historical features often overlooked include:
- Morning headaches (present in 20-40% of OSA patients, resulting from nocturnal hypercapnia)
- Nocturia (present in up to 84% of OSA patients; often mistakenly attributed solely to prostatic or bladder pathology)
- Nocturnal gastroesophageal reflux (negative intrathoracic pressure during obstructive events promotes reflux)
- Treatment-resistant hypertension (OSA present in 70-83% of resistant hypertension cases)
Hack: When patients deny snoring, specifically ask the bed partner: "Does your partner make choking or gasping sounds during sleep?" This question often elicits positive responses when general inquiries about snoring do not.
Diagnostic Considerations
While polysomnography remains the gold standard, home sleep apnea testing (HSAT) has gained acceptance for patients with high pretest probability and no significant comorbidities. The apnea-hypopnea index (AHI) quantifies severity: mild (5-15 events/hour), moderate (15-30), and severe (>30).
Oyster: Central sleep apnea (CSA) may masquerade as OSA. Key historical differentiators include absence of snoring, association with heart failure or opioid use, and insomnia rather than hypersomnia. CSA comprises 5-15% of sleep-disordered breathing cases but requires different therapeutic approaches.
Treatment extends beyond CPAP to include positional therapy for positional OSA, oral appliances for mild-to-moderate disease, hypoglossal nerve stimulation, and surgical options. Weight loss of 10-15% can reduce AHI by 50% in obese patients.
Chronic Insomnia Disorder: A Multifaceted Challenge
Definition and Epidemiology
Chronic insomnia disorder, defined as difficulty initiating or maintaining sleep occurring ≥3 nights weekly for ≥3 months with associated daytime impairment, affects 10-15% of adults. The condition frequently coexists with medical and psychiatric disorders, creating diagnostic and therapeutic complexity.
Historical Assessment
The insomnia history requires meticulous attention to temporal patterns, perpetuating factors, and associated behaviors.
Pearl 2: Distinguish between sleep-onset insomnia (suggesting anxiety, circadian misalignment, or restless legs syndrome), sleep-maintenance insomnia (suggesting depression, pain, or sleep apnea), and early-morning awakening (classically associated with depression but also seen in anxiety and circadian disorders).
Critical historical elements include:
- Sleep-wake schedules on workdays versus non-workdays (revealing circadian misalignment or social jetlag)
- Pre-sleep routines and bedroom environment (identifying conditioned arousal)
- Substance use, including caffeine timing and quantity, alcohol, and medications
- Comorbid medical conditions, particularly pain syndromes, GERD, and nocturia
- Mental health history, as insomnia frequently heralds or exacerbates mood and anxiety disorders
Hack: Ask patients to describe their thoughts when attempting to sleep. Those with psychophysiologic insomnia typically report racing thoughts about sleep itself ("Will I fall asleep tonight?" "I have to sleep or I'll be exhausted tomorrow"), whereas those with primary anxiety report ruminations about life stressors.
Management Approaches
Cognitive behavioral therapy for insomnia (CBT-I) represents first-line treatment, demonstrating sustained efficacy superior to pharmacotherapy. Core components include stimulus control therapy, sleep restriction, cognitive restructuring, sleep hygiene education, and relaxation techniques. Digital CBT-I platforms now provide accessible alternatives when in-person therapy is unavailable.
Pharmacologic options include FDA-approved agents (zolpidem, eszopiclone, zaleplon, suvorexant, lemborexant, daridorexant) and off-label medications (trazodone, doxepin, gabapentin). Selection depends on insomnia subtype, comorbidities, and side-effect profiles.
Pearl 3: Melatonin receptor agonists and orexin antagonists carry lower abuse potential than benzodiazepines and may be preferable in patients with substance use history. However, melatonin itself demonstrates modest efficacy for insomnia (primarily beneficial for circadian disorders) despite widespread use.
Restless Legs Syndrome: The Urge to Move
Clinical Characteristics
RLS, affecting 5-10% of the population, manifests as an uncomfortable urge to move the legs, typically during rest periods, with symptomatic relief through movement and circadian exacerbation in evening/nighttime hours. The condition significantly impairs quality of life and sleep quality.
Diagnostic Essentials from History
The International Restless Legs Syndrome Study Group criteria require: (1) urge to move legs, usually accompanied by uncomfortable sensations; (2) symptoms begin or worsen during rest; (3) symptoms partially or totally relieved by movement; (4) symptoms worse in evening/night than daytime; (5) not solely accounted for by another condition.
Oyster: RLS mimics include nocturnal leg cramps (brief, painful, palpable muscle contractions), positional discomfort (not relieved by movement), neuropathy (not circadian-dependent), and akathisia (generalized restlessness without leg-specific symptoms). Precise questioning about timing, relief patterns, and sensation quality distinguishes these entities.
Key historical elements:
- Family history (positive in 40-90% of early-onset RLS)
- Iron status history (ferritin <75 μg/L associated with RLS severity)
- Medication history, particularly antidopaminergic agents, antidepressants, and antihistamines that exacerbate RLS
- Pregnancy history in women (RLS affects 10-30% of pregnant women, typically resolving postpartum)
Hack: Ask patients whether symptoms occur while seated during passive activities like watching movies or attending lectures. Positive responses strongly suggest RLS, as positional discomfort or vascular claudication would not manifest during prolonged sitting.
Treatment Strategies
Iron supplementation for ferritin <75-100 μg/L represents initial therapy. Dopamine agonists (pramipexole, ropinirole) effectively reduce symptoms but carry augmentation risk (symptom worsening with chronic use, occurring in 20-60% of patients). Alpha-2-delta ligands (gabapentin, pregabalin) increasingly represent first-line pharmacotherapy given lower augmentation risk. Opioids reserve for refractory cases.
Circadian Rhythm Sleep-Wake Disorders
These disorders involve misalignment between endogenous circadian rhythms and desired or required sleep-wake schedules. Common presentations include delayed sleep-wake phase disorder (DSWPD) and advanced sleep-wake phase disorder (ASWPD).
Pearl 4: In DSWPD (common in adolescents and young adults), patients report excellent sleep quality when allowed to follow their preferred late schedule (e.g., sleeping 3 AM-11 AM) but severe sleep-onset insomnia when attempting conventional schedules. This contrasts with primary insomnia, where sleep quality remains poor regardless of schedule.
Historical assessment should establish habitual sleep-wake times, including differences between workdays and free days, alertness patterns throughout the day, and response to sleep schedule manipulation.
Treatment includes properly-timed bright light therapy, melatonin administration (0.5-3 mg), and gradual sleep schedule shifting. For DSWPD, morning bright light (10,000 lux for 30-60 minutes upon awakening) and evening melatonin (4-6 hours before desired bedtime) advance circadian phase. ASWPD treatment involves evening bright light exposure.
Narcolepsy and Idiopathic Hypersomnia
While less common than other disorders discussed, these central disorders of hypersomnolence warrant recognition given substantial diagnostic delays (often 5-15 years) and impairment severity.
Pearl 5: Cataplexy (sudden bilateral muscle atonia triggered by strong emotions, particularly laughter) pathognomically indicates narcolepsy type 1. Ask specifically: "When you laugh hard, do your knees buckle or does your head drop?" Rather than general weakness questions, emotion-triggered specific motor phenomena suggest cataplexy.
Narcolepsy presents with excessive daytime sleepiness, cataplexy (in type 1), sleep paralysis, hypnagogic hallucinations, and disrupted nocturnal sleep. Diagnosis requires polysomnography followed by multiple sleep latency testing demonstrating mean sleep latency ≤8 minutes with ≥2 sleep-onset REM periods.
Idiopathic hypersomnia features prolonged nocturnal sleep (>9 hours), severe sleep inertia ("sleep drunkenness"), and prolonged unrefreshing naps, without cataplexy or REM abnormalities.
Practical Approach to Sleep History
A systematic sleep history should encompass:
- Sleep-wake schedule: Bedtime, sleep-onset latency, awakenings, final wake time, out-of-bed time, weekday versus weekend patterns
- Sleep quality and quantity: Total sleep time, restfulness, dreams/nightmares
- Nocturnal symptoms: Snoring, witnessed apneas, choking/gasping, movements, parasomnias, pain, nocturia
- Daytime manifestations: Sleepiness (quantify with Epworth Sleepiness Scale), fatigue, cognitive impairment, mood disturbance
- Sleep environment and habits: Bedroom conditions, pre-sleep routines, technology use, bed partner effects
- Perpetuating factors: Medications, substances, medical/psychiatric comorbidities, shift work, travel across time zones
Hack: Distinguish sleepiness from fatigue by asking: "If you were lying comfortably watching television mid-afternoon, would you fall asleep?" Sleepiness implies sleep propensity; fatigue represents low energy without increased sleep propensity.
Conclusion
Sleep disorders substantially impact quality of life, medical comorbidities, and mortality. Internists occupy a critical position for recognition and initial management. Thorough sleep history-taking, utilizing specific questioning techniques highlighted in this review, enables accurate diagnosis. Understanding the nuances distinguishing similar presentations prevents diagnostic errors and therapeutic misadventures. As sleep medicine continues evolving with novel therapeutics and enhanced understanding of sleep neurobiology, internists must maintain current knowledge to optimize patient outcomes.
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