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Sleep Apnoea Syndrome

Disease Details

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Description: Sleep apnoea syndrome is a sleep disorder characterized by repeated interruptions in breathing during sleep due to airway obstruction or decreased respiratory effort.
Type: Sleep apnoea syndrome, primarily obstructive sleep apnea (OSA), is not typically classified under a single type of genetic transmission. However, genetic factors do play a role in its development. It often follows a complex inheritance pattern, meaning multiple genes, along with environmental factors, contribute to the risk of developing the condition. While familial aggregation studies suggest a genetic predisposition, there isn't a straightforward Mendelian inheritance pattern like autosomal dominant or recessive.
Signs And Symptoms: The typical screening process for sleep apnea involves asking patients about common symptoms such as snoring, witnessed pauses in breathing during sleep and excessive daytime sleepiness. There is a wide range in presenting symptoms in patients with sleep apnea, from being asymptomatic to falling asleep while driving. Due to this wide range in clinical presentation, some people are not aware that they have sleep apnea and are either misdiagnosed or ignore the symptoms altogether. A current area requiring further study involves identifying different subtypes of sleep apnea based on patients who tend to present with different clusters or groupings of particular symptoms.OSA may increase risk for driving accidents and work-related accidents due to sleep fragmentation from repeated arousals during sleep. If OSA is not treated it results in excessive daytime sleepiness and oxidative stress from the repeated drops in oxygen saturation, people are at increased risk of other systemic health problems, such as diabetes, hypertension or cardiovascular disease. Subtle manifestations of sleep apnea may include treatment refractory hypertension and cardiac arrhythmias and over time as the disease progresses, more obvious symptoms may become apparent. Due to the disruption in daytime cognitive state, behavioral effects may be present. These can include moodiness, belligerence, as well as a decrease in attentiveness and energy. These effects may become intractable, leading to depression.
Prognosis: Death could occur from untreated OSA due to lack of oxygen to the body.There is increasing evidence that sleep apnea may lead to liver function impairment, particularly fatty liver diseases (see steatosis).It has been revealed that people with OSA show tissue loss in brain regions that help store memory, thus linking OSA with memory loss. Using magnetic resonance imaging (MRI), the scientists discovered that people with sleep apnea have mammillary bodies that are about 20% smaller, particularly on the left side. One of the key investigators hypothesized that repeated drops in oxygen lead to the brain injury.The immediate effects of central sleep apnea on the body depend on how long the failure to breathe endures. At worst, central sleep apnea may cause sudden death. Short of death, drops in blood oxygen may trigger seizures, even in the absence of epilepsy. In people with epilepsy, the hypoxia caused by apnea may trigger seizures that had previously been well controlled by medications. In other words, a seizure disorder may become unstable in the presence of sleep apnea. In adults with coronary artery disease, a severe drop in blood oxygen level can cause angina, arrhythmias, or heart attacks (myocardial infarction). Longstanding recurrent episodes of apnea, over months and years, may cause an increase in carbon dioxide levels that can change the pH of the blood enough to cause a respiratory acidosis.
Onset: Sleep apnea syndrome, commonly known as sleep apnea, can develop at any age but most frequently appears in adults, particularly those who are middle-aged or older. Risk factors include obesity, male gender, and a family history of the condition. Though less common, it can also occur in children, especially if they have enlarged tonsils or adenoids.
Prevalence: Sleep apnea syndrome, including its most common form, obstructive sleep apnea (OSA), affects approximately 2-9% of adults in the general population. The prevalence can be higher in specific groups, such as individuals with obesity, elderly populations, and men.
Epidemiology: The Wisconsin Sleep Cohort Study estimated in 1993 that roughly one in every 15 Americans was affected by at least moderate sleep apnea. It also estimated that in middle-age as many as 9% of women and 24% of men were affected, undiagnosed and untreated.The costs of untreated sleep apnea reach further than just health issues. It is estimated that in the U.S., the average untreated sleep apnea patient's annual health care costs $1,336 more than an individual without sleep apnea. This may cause $3.4 billion/year in additional medical costs. Whether medical cost savings occur with treatment of sleep apnea remains to be determined.
Intractability: Sleep apnea syndrome is not considered intractable. It can often be managed effectively with various treatments such as lifestyle changes (e.g., weight loss, avoiding alcohol), continuous positive airway pressure (CPAP) therapy, oral appliances, and in some cases, surgical interventions. Proper diagnosis and tailored treatment plans can significantly improve symptoms and overall quality of life for individuals with this condition.
Disease Severity: The severity of sleep apnea syndrome can vary widely based on the number of apnea events per hour of sleep, as measured by the apnea-hypopnea index (AHI). It is typically classified as follows:
- Mild: 5-14 events per hour
- Moderate: 15-29 events per hour
- Severe: 30 or more events per hour

Prompt diagnosis and treatment are important to manage the condition and reduce the risk of complications.
Healthcare Professionals: Disease Ontology ID - DOID:0050847
Pathophysiology: The pathophysiology of sleep apnea syndrome primarily involves the intermittent relaxation of the muscles in the throat during sleep. This relaxation can cause a temporary blockage of the airway, leading to repeated episodes of partial or complete obstruction. This results in reduced or paused breathing and subsequent drops in blood oxygen levels. In response, the brain briefly awakens the individual to reopen the airway, often without them being aware, leading to fragmented sleep and various systemic effects such as cardiovascular strain. Over time, these events can contribute to hypertension, heart disease, and metabolic disorders.
Carrier Status: Sleep apnea syndrome is not typically inherited in a simple carrier status manner, as it is not a single-gene disorder. It is a complex condition influenced by multiple genetic and environmental factors.
Mechanism: Obstructive sleep apnea
The causes of obstructive sleep apnea are complex and individualized, but typical risk factors include narrow pharyngeal anatomy and craniofacial structure. When anatomical risk factors are combined with non-anatomical contributors such as an ineffective pharyngeal dilator muscle function during sleep, unstable control of breathing (high loop gain), and premature awakening to mild airway narrowing, the severity of the OSA rapidly increases as more factors are present. When breathing is paused due to upper airway obstruction, carbon dioxide builds up in the bloodstream. Chemoreceptors in the bloodstream note the high carbon dioxide levels. The brain is signaled to awaken the person, which clears the airway and allows breathing to resume. Breathing normally will restore oxygen levels and the person will fall asleep again. This carbon dioxide build-up may be due to the decrease of output of the brainstem regulating the chest wall or pharyngeal muscles, which causes the pharynx to collapse. People with sleep apnea experience reduced or no slow-wave sleep and spend less time in REM sleep.Central sleep apnea
There are two main mechanism that drive the disease process of CSA, sleep-related hypoventilation and post-hyperventilation hypocapnia. The most common cause of CSA is post-hyperventilation hypocapnia secondary to heart failure. This occurs because of brief failures of the ventilatory control system but normal alveolar ventilation. In contrast, sleep-related hypoventilation occurs when there is a malfunction of the brain's drive to breathe. The underlying cause of the loss of the wakefulness drive to breathe encompasses a broad set of diseases from strokes to severe kyphoscoliosis.
Treatment: The management of obstructive sleep apnea was improved with the introduction of continuous positive airway pressure (CPAP), first described in 1981 by Colin Sullivan and associates in Sydney, Australia. The first models were bulky and noisy, but the design was rapidly improved and by the late 1980s, CPAP was widely adopted. The availability of an effective treatment stimulated an aggressive search for affected individuals and led to the establishment of hundreds of specialized clinics dedicated to the diagnosis and treatment of sleep disorders. Though many types of sleep problems are recognized, the vast majority of patients attending these centers have sleep-disordered breathing. Sleep apnea awareness day is 18 April in recognition of Colin Sullivan.
Compassionate Use Treatment: Compassionate use, off-label, or experimental treatments for sleep apnea syndrome might include:

1. *Adaptive Servo-Ventilation (ASV)*: Typically used for central sleep apnea or complex sleep apnea when standard treatments are not effective.
2. *Implantable Devices*: Hypoglossal nerve stimulators like Inspire, which stimulate the tongue muscles to prevent airway collapse.
3. *Pharmacotherapy*: Certain medications like acetazolamide and theophylline can be used off-label to treat central sleep apnea in specific cases.
4. *Positional Therapy Devices*: Specialized pillows or wearable devices to encourage side-sleeping, used off-label for positional obstructive sleep apnea.
5. *Oxygen Therapy*: Supplemental oxygen may be used in specific cases of central sleep apnea or when hypoxemia is a concern, although this is less common.

Always consult with a healthcare provider for personalized advice and treatment options.
Lifestyle Recommendations: Lifestyle recommendations for sleep apnea syndrome include:

1. **Weight Management**: Lose excess weight to reduce fatty deposits in the neck and improve breathing.
2. **Exercise**: Regular physical activity can help alleviate symptoms.
3. **Sleep Position**: Avoid sleeping on your back; try sleeping on your side.
4. **Avoid Alcohol and Sedatives**: These can relax throat muscles and worsen apnea.
5. **Quit Smoking**: Smoking can increase the inflammation and fluid retention in the airways.
6. **Establish a Sleep Routine**: Go to bed and wake up at the same time every day.
7. **Elevate the Head of Your Bed**: Raise the head of your bed by about 4-6 inches to prevent airway obstruction.

It's important to consult with a healthcare provider for a comprehensive treatment plan.
Medication: There is currently insufficient evidence to recommend any medication for OSA. This may result in part because people with sleep apnea have tended to be treated as a single group in clinical trials. Identifying specific physiological factors underlying sleep apnea makes it possible to test drugs specific to those causal factors: airway narrowing, impaired muscle activity, low arousal threshold for waking, and unstable breathing control.
Those who experience low waking thresholds may benefit from eszopiclone, a sedative typically used to treat insomnia. The antidepressant desipramine may stimulate upper airway muscles and lessen pharyngeal collapsibility in people who have limited muscle function in their airways.There is limited evidence for medication, but 2012 AASM guidelines suggested that acetazolamide "may be considered" for the treatment of central sleep apnea; zolpidem and triazolam may also be considered for the treatment of central sleep apnea, but "only if the patient does not have underlying risk factors for respiratory depression".
Low doses of oxygen are also used as a treatment for hypoxia but are discouraged due to side effects.
Repurposable Drugs: Currently, several repurposable drugs have shown potential in treating sleep apnea syndrome. These include:

1. **Acetazolamide**: A diuretic that can help reduce the frequency of apneas by creating a mild metabolic acidosis and stimulating breathing.
2. **Modafinil**: Originally used for narcolepsy, it helps reduce excessive daytime sleepiness in patients with obstructive sleep apnea.
3. **Theophylline**: A bronchodilator used for asthma and COPD, it has been explored for its stimulant effects on the respiratory system.
4. **Mirtazapine**: An antidepressant that may help reduce the severity of obstructive sleep apnea by acting on specific neural pathways.

Research is ongoing, and these drugs should be used under medical supervision for sleep apnea.
Metabolites: Sleep apnea syndrome is primarily characterized by repeated episodes of partial or complete obstruction of the upper airway during sleep. While specific metabolites directly tied to sleep apnea aren't clearly established, the condition can affect metabolism and is associated with altered levels of several biomarkers:

1. **Glucose**: Patients with sleep apnea often have higher levels of glucose due to insulin resistance.
2. **Lipids**: There may be increased levels of cholesterol and triglycerides.
3. **Inflammatory Markers**: Elevated levels of C-reactive protein (CRP) and interleukin-6 (IL-6) are common.

No specific metabolite called "nan" is recognized in relation to sleep apnea syndrome. The term may be incorrectly referenced or a typographical error.
Nutraceuticals: There is currently limited evidence to support the efficacy of nutraceuticals in treating sleep apnea syndrome. While some supplements like melatonin, magnesium, or omega-3 fatty acids might aid in improving sleep quality, they are not established treatments for sleep apnea. It is essential to consult a healthcare provider for an accurate diagnosis and appropriate treatment plan, which might include lifestyle changes, continuous positive airway pressure (CPAP) therapy, or other medical interventions.
Peptides: Sleep apnea syndrome, also known as obstructive sleep apnea (OSA), is a condition where breathing repeatedly stops and starts during sleep. While specific peptides for treatment are not standard, research is ongoing. Some peptides may influence sleep and respiratory functions, potentially providing new treatment avenues in the future. However, their clinical application in OSA is still in experimental stages.