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Obstructive Sleep Apnea

Disease Details

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Description: Obstructive sleep apnea is a sleep disorder characterized by repeated episodes of partial or complete blockage of the upper airway during sleep, leading to breathing pauses and reduced oxygen levels.
Type: Obstructive sleep apnea (OSA) is not typically classified under a single type of genetic transmission; it is considered a multifactorial disorder. This means that its development is influenced by a combination of genetic, environmental, and lifestyle factors. Some genetic predispositions may increase the risk, but it does not follow a clear Mendelian inheritance pattern.
Signs And Symptoms: Common symptoms of OSA syndrome include unexplained daytime sleepiness, restless sleep, and loud snoring (with periods of silence followed by gasps). Less common symptoms are morning headaches; insomnia; trouble concentrating; mood changes such as irritability, anxiety, and depression; forgetfulness; increased heart rate or blood pressure; decreased sex drive; unexplained weight gain; increased urinary frequency or nocturia; frequent heartburn or gastroesophageal reflux; and heavy night sweats.Many people experience episodes of OSA transiently, for only a short period of time. This can be the result of an upper respiratory infection that causes nasal congestion, along with swelling of the throat, or tonsillitis that temporarily produces very enlarged tonsils. The Epstein-Barr virus, for example, is known to be able to dramatically increase the size of lymphoid tissue during acute infection, and OSA is fairly common in acute cases of severe infectious mononucleosis. Temporary spells of OSA syndrome may also occur in people who are under the influence of a drug (such as alcohol) that may relax their body tone excessively and interfere with normal arousal from sleep mechanisms.
Prognosis: Stroke and other cardiovascular diseases are related to OSA, and those under the age of 70 have an increased risk of early death. Persons with sleep apnea have a 30% higher risk of heart attack or death than those unaffected. In severe and prolonged cases, increased in pulmonary pressures are transmitted to the right side of the heart. This can result in a severe form of congestive heart failure known as cor pulmonale. Diastolic function of the heart also becomes affected. Elevated arterial pressure (i.e., hypertension) can be a consequence of OSA syndrome. When hypertension is caused by OSA, it is distinctive in that, unlike most cases (so-called essential hypertension), the readings do not drop significantly when the individual is sleeping (non-dipper) or even increase (inverted dipper).Without treatment, the sleep deprivation and lack of oxygen caused by sleep apnea increases health risks such as cardiovascular disease, aortic disease (e.g. aortic aneurysm), high blood pressure, stroke, diabetes, clinical depression, weight gain, obesity, and even death.
OSA is associated with cognitive impairment, including deficits in inductive and deductive reasoning, attention, vigilance, learning, executive functions, and episodic and working memory. OSA is associated with increased risk for developing mild cognitive impairment and dementia, and has been associated with neuroanatomical changes (reductions in volumes of the hippocampus, and gray matter volume of the frontal and parietal lobes) which can however be at least in part reversed with CPAP treatment.
Onset: The onset of obstructive sleep apnea can occur at any age but it is most commonly diagnosed in middle-aged and older adults. It can also affect children, especially those with enlarged tonsils or adenoids.
Prevalence: The prevalence of obstructive sleep apnea (OSA) varies, but it is estimated that approximately 2-9% of adults in the general population are affected. The condition is more common in men than in women and becomes more prevalent with increasing age and obesity.
Epidemiology: Until the 1990s, little was known regarding the frequency of OSA. A recent meta-analysis of 24 epidemiological studies on the prevalence of OSA in the general population aged 18 and older revealed that for ≥ 5 apnea events per hour, OSA prevalence ranged from 9% to 38%, specifically ranging from 13% to 33% in men and 6% to 19% in women, while in the population aged 65 and older, OSA prevalence was as high as 84%, including 90% in men and 78% in women. Nevertheless, for ≥ 15 apnea events per hour, OSA prevalence ranged from 6% to 17%, and almost 49% prevalence in the older population aged 65 and older. Moreover, a higher BMI is also linked to a higher prevalence of OSA, where a 10% increase in body weight led to a 6-fold risk of OSA in obese men and women.However, OSA is underdiagnosed as it is not always accompanied by daytime sleepiness which can leave the sleep-disordered breathing unnoticed. The prevalence of OSA with daytime sleepiness is thus estimated to affect 3% to 7% of men and 2% to 5% of women, and the disease is common in both developed and developing countries. OSA prevalence increases with age and is most commonly diagnosed in individuals over 65 years old, with estimations ranging from 22.1% to 83.6%. The prevalence has drastically increased in recent decades due to the incidence of obesity.Men are more affected by OSA than women, but the phenomenology differs between both genders. Snoring and witnessed apnea are more frequent among men but insomnia for example is more frequent among women. The OSA frequency increase with age for the women. The mortality is higher for women.Some studies report that it is more frequent among the Hispanic and African American population than among the white population.If studied carefully in a sleep lab by polysomnography (formal "sleep study"), it is believed that approximately 1 in 5 American adults would have at least mild OSA.
Intractability: Obstructive sleep apnea (OSA) is not necessarily intractable. While it is a chronic condition requiring ongoing management, many effective treatments are available. These include lifestyle changes such as weight loss and positional therapy, the use of continuous positive airway pressure (CPAP) devices, oral appliances, and, in some cases, surgical interventions. Proper management can significantly mitigate symptoms and improve quality of life.
Disease Severity: Obstructive sleep apnea (OSA) severity is commonly assessed based on the apnea-hypopnea index (AHI), which measures the number of apnea (complete blockage of airflow) and hypopnea (partial blockage of airflow) events per hour of sleep:
- Mild OSA: AHI of 5 to 15 events per hour.
- Moderate OSA: AHI of 15 to 30 events per hour.
- Severe OSA: AHI greater than 30 events per hour.

These severity levels help determine appropriate treatment and management strategies for the condition.
Healthcare Professionals: Disease Ontology ID - DOID:0050848
Pathophysiology: The transition from wakefulness to sleep (either REM sleep or NREM sleep) is associated with a reduction in upper-airway muscle tone. During REM sleep, muscle tone of the throat and neck, as well as that of the vast majority of skeletal muscles, are almost completely relaxed. This allows the tongue and soft palate/oropharynx to relax, reducing airway patency and potentially impeding or completely obstructing the flow of air into the lungs during inspiration, resulting in reduced respiratory ventilation. If reductions in ventilation are associated with sufficiently low blood-oxygen levels or with sufficiently high breathing efforts against an obstructed airway, neurological mechanisms may trigger a sudden interruption of sleep, called a neurological arousal. This arousal can cause an individual to gasp for air and awaken. These arousals rarely result in complete awakening but can have a significant negative effect on the restorative quality of sleep. In significant cases of OSA, one consequence is sleep deprivation resulting from the repetitive disruption and recovery of sleep activity. This sleep interruption in Stage 3 (also called slow-wave sleep), and in REM sleep, can interfere with normal growth patterns, healing and immune response, especially in children and young adults.
The fundamental cause of OSA is a blocked upper airway, usually behind the tongue and epiglottis, whereby the otherwise patent airway, in an erect and awake patient, collapses when the patient is lying on his or her back and loses muscle tone upon entering deep sleep.
At the beginning of sleep, a patient is in light sleep and there is no tone loss of throat muscles. Airflow is laminar and soundless. As the upper airway collapse progresses, the obstruction becomes increasingly apparent by the initiation of noisy breathing as air turbulence increases, followed by gradually louder snoring as a Venturi effect forms through the ever-narrowing air passage.
The patient's blood-oxygen saturation gradually falls until cessation of sleep noises, signifying total airway obstruction of airflow, which may last for several minutes.
Eventually, the patient must at least partially awaken from deep sleep into light sleep, automatically regaining general muscle tone. This switch from deep to light to deep sleep can be recorded using ECT monitors.
In light sleep, muscle tone is near normal, the airway spontaneously opens, normal noiseless breathing resumes and blood-oxygen saturation rises. Eventually, the patient reenters deep sleep, upper airway tone is again lost, the patient enters the various levels of noisy breathing and the airway blockage returns.
The cycle of muscle-tone loss and restoration coinciding with periods of deep and light sleep repeats throughout the patient's period of sleep.
The number of apnoea and hypopnoea episodes during any given hour is counted and given a score. If a patient has an average of five or more episodes per hour, mild OSA may be confirmed. An average of 30 or more episodes per hour indicates severe OSA.
Carrier Status: Obstructive sleep apnea (OSA) is not a condition that involves being a carrier. It is a sleep disorder characterized by repeated episodes of partial or complete blockage of the airway during sleep. The risk factors include obesity, a narrowed airway, family history, alcohol consumption, smoking, and certain medical conditions such as hypertension. It is typically diagnosed through sleep studies.
Mechanism: **Mechanism:**
Obstructive sleep apnea (OSA) is a condition characterized by repetitive episodes of partial or complete obstruction of the upper airway during sleep. These obstructions lead to reduced or completely blocked airflow, despite ongoing respiratory efforts. Common mechanisms include:

1. **Anatomical Factors:** Narrowing of the airway due to enlarged tonsils, a thick neck circumference, or a crowded oropharynx.
2. **Neuromuscular Factors:** Decreased muscle tone in the upper airway muscles during sleep, leading to collapse.
3. **Obesity:** Increased fat deposits around the upper airway that can obstruct breathing.

**Molecular Mechanisms:**
While OSA is primarily diagnosed and understood through its physiological manifestations, several molecular mechanisms also contribute to its pathogenesis and related consequences:

1. **Inflammation:** Hypoxia (low oxygen levels) from repeated apneas can trigger inflammatory pathways, increasing cytokine production (e.g., TNF-α, IL-6).
2. **Oxidative Stress:** Intermittent hypoxia/reoxygenation cycles generate reactive oxygen species (ROS), contributing to oxidative stress and cellular damage.
3. **Metabolic Dysregulation:** Hypoxia-inducible factors (HIFs) are upregulated, influencing metabolic pathways and contributing to insulin resistance.
4. **Endothelial Dysfunction:** Reduced nitric oxide availability and increased expression of adhesion molecules can promote vascular inflammation and atherosclerosis.
5. **Genetic Factors:** Certain genetic polymorphisms may predispose individuals to OSA by affecting neuromuscular control, fat distribution, and inflammatory responses.

Together, these mechanisms and molecular pathways contribute to the development and complications of obstructive sleep apnea.
Treatment: Numerous treatment options are used in obstructive sleep apnea. Avoiding alcohol and smoking is recommended, as is avoiding medications that relax the central nervous system (for example, sedatives and muscle relaxants). Weight loss is recommended in those who are overweight. Continuous positive airway pressure (CPAP) and mandibular advancement devices are often used and found to be equally effective. Physical training, even without weight loss, improves sleep apnea. There is insufficient evidence to support widespread use of medications. In selected patients, e.g. with tonsillar hyperplasia, tonsillectomy is recommended. In patients failing CPAP and oral appliances, surgical treatment with conservative uvulopalatopharyngoplasty (UPPP) as salvage surgery is recommended. Randomized controlled studies of the efficacy of UPPP are published, showing effect on nocturnal respiration and excessive daytime sleepiness, and a systematic Meta-analysis.
Compassionate Use Treatment: For obstructive sleep apnea (OSA), compassionate use treatments and off-label or experimental treatments might include:

1. **Implantable Neurostimulation Devices**: Devices like Inspire therapy, which is an implantable device that stimulates the hypoglossal nerve to keep the airway open during sleep. While FDA-approved, its use can be considered off-label for certain patient groups or conditions.

2. **Medications**: Certain medications, such as Modafinil or Armodafinil, are approved to treat excessive daytime sleepiness in patients with OSA but are not primary treatments for the apnea itself. These are sometimes used off-label to manage symptoms associated with OSA.

3. **Pharyngeal Surgery Devices**: Experimental surgical devices aimed at remodeling the pharyngeal airway, including newer, less invasive techniques, may be available under compassionate use for patients who do not respond to other treatments.

4. **Drug-induced Sleep Endoscopy (DISE) Guided Procedures**: Experimental surgical approaches guided by DISE to tailor surgeries more precisely to the patient's airway collapse pattern.

5. **Serotonergic Agents**: Some studies suggest that selective serotonin reuptake inhibitors (SSRIs) or selective serotonin agonists may help in reducing apneic events, though they are not widely accepted or approved specifically for OSA.

These treatments are generally considered when conventional therapies like Continuous Positive Airway Pressure (CPAP) or mandibular advancement devices fail or are unsuitable for the patient.
Lifestyle Recommendations: Here are some lifestyle recommendations for managing obstructive sleep apnea:

1. **Weight Loss**: Losing weight can significantly reduce the severity of obstructive sleep apnea. Even a small amount of weight loss can help improve symptoms.

2. **Exercise**: Regular physical activity can help maintain a healthy weight, improve sleep quality, and reduce the severity of sleep apnea.

3. **Sleep Position**: Sleeping on your side rather than on your back can help keep your airway open. Some people use special pillows to maintain proper sleep positions.

4. **Avoid Alcohol and Sedatives**: These substances relax the muscles in your throat, which can worsen sleep apnea. It’s best to avoid them, especially in the evening.

5. **Quit Smoking**: Smoking can increase inflammation and fluid retention in the upper airway, which can worsen sleep apnea.

6. **Regular Sleep Schedule**: Maintaining a consistent sleep routine with regular sleep and wake times can help improve overall sleep quality.

7. **Humidify Your Bedroom**: Using a humidifier can open your airways, decrease congestion, and promote better sleep.

Adopting these lifestyle changes can complement other treatments and improve the effectiveness of therapeutic interventions for obstructive sleep apnea.
Medication: Evidence is insufficient to support the use of medications to treat obstructive sleep apnea. This includes the use of fluoxetine, paroxetine, acetazolamide, and tryptophan among others.Recent studies are trying to investigate cannabinoids as a treatment for OSA, especially dronabinol which is a synthetic form of THC (delta-9-tetrahydrocannabinol). Cannabis is known to influence sleep, for example it can reduce sleep onset latency, however, results are not consistent. Studies about dronabinol have shown positive impact on the OSA, as they observed a reduced AHI (Apnea-Hypopnea Index) and an increased self-reported sleepiness (the objective sleepiness being unaffected). However, more evidence are needed as many effects of those substances remain unknown, especially the effects of a long-term intake. The effect on sleepiness and weight gain are particularly of concern. Because of uncertainty about its effects and a lack of consistent evidence, the American Academy of Sleep Medicine does not approve the use of medical cannabis for the treatment of OSA.
Repurposable Drugs: Repurposable drugs for obstructive sleep apnea (OSA) include certain medications already approved for other conditions that might be effective in treating OSA. These include:

1. **Modafinil/Armodafinil**: Originally for narcolepsy, these can help with daytime sleepiness associated with OSA.
2. **Acetazolamide**: A diuretic used to treat altitude sickness may help by reducing breathing disruptions during sleep.
3. **Eplerenone**: A mineralocorticoid receptor antagonist, initially for hypertension and heart failure, may have potential benefits in OSA by reducing fluid accumulation in the neck area.

Clinical studies are necessary to confirm their efficacy and safety in OSA treatment.
Metabolites: For obstructive sleep apnea (OSA), there are no unique or specific metabolites that are consistently associated with the condition. OSA mainly involves repeated episodes of partial or complete obstruction of the upper airway during sleep, leading to disrupted sleep and intermittent hypoxia. Therefore, it is typically diagnosed based on sleep studies rather than on the presence of specific metabolites.
Nutraceuticals: Nutraceuticals in the context of obstructive sleep apnea (OSA) typically refer to dietary supplements or foods with potential health benefits that may help manage the condition. These may include:

1. **Omega-3 Fatty Acids**: Found in fish oil, may help reduce inflammation and improve sleep quality.
2. **Melatonin**: A hormone that regulates sleep-wake cycles, melatonin supplements can potentially assist in managing sleep disorders, including OSA.
3. **Vitamin D**: Adequate levels may support overall respiratory health and have been linked to better sleep quality.
4. **Antioxidants**: Nutrients like vitamin C, vitamin E, and selenium could help reduce oxidative stress, which is often elevated in individuals with OSA.

These nutraceuticals may serve as complementary approaches but are not substitutes for conventional treatments like Continuous Positive Airway Pressure (CPAP) therapy, weight management, and lifestyle changes. Always seek medical advice before starting any new supplement regimen.
Peptides: Obstructive sleep apnea (OSA) is a condition characterized by repeated episodes of partial or complete blockage of the upper airway during sleep, leading to disrupted sleep and lowered oxygen levels in the blood. Peptides and nanotechnology are emerging areas of research for treating OSA, though they are not yet standard treatments.

**Peptides:** These small chains of amino acids can have various therapeutic effects. In OSA research, peptides might be explored for their potential to reduce inflammation, enhance muscle tone in the airway, or improve sleep regulation. However, specific peptide treatments for OSA are still in experimental stages.

**Nanotechnology (nan):** This involves manipulating materials at an atomic or molecular scale. In the context of OSA, nanotechnology could be used to develop advanced drug delivery systems, ensuring medications are delivered precisely to their intended site of action, or to create more sensitive diagnostic tools. Research is ongoing in these areas.

Current standard treatments for OSA include lifestyle changes, Continuous Positive Airway Pressure (CPAP) therapy, oral appliances, and surgical interventions.