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Is Sleep Apnea Hereditary: The Genetic Pattern in OSA

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Obstructive sleep apnea is a debilitating condition causing severe pauses in breathing during sleep by partially or completely blocking the upper airways. Both partial and complete forms of apnea impact the sleeper’s oxygen intake, which in turn leads to a range of serious side symptoms and complications. There are three types of sleep apnea—obstructive, central, and mixed apnea. Today we will focus on the most widespread type—obstructive sleep apnea, or OSA. This article will discuss the risk of sleep apnea when a present genetic pattern is determined, the genetic impact on sleep apnea symptoms displayed by a subject in a risk group and how the disorder affect heart disease, hypertension and other most common side effects of OSA.

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Ask any OSA sufferer about sleep apnea symptoms and they will produce a list of these, including interrupted sleep and frequent awakenings to severe daytime sleepiness or fatigue, and, of course, the usual suspect—loud snoring interrupted by gasping sounds. Beneath the tip of the iceberg of OSA signs is an underlying bulk of health complications that the sleeper might not even suspect they are exposed to.

Among these health complications are low blood oxygen levels (hypoxemia), high blood pressure (hypertension), insulin resistance, Alzheimer’s disease and more. The disorder leads to a higher risk of stroke and heart failure, impairs your memory and ability to focus, causes morning headaches, sexual dysfunction and depression. All of the above are caused by what may seem like a simple upper-airway blockage happening at night.

 

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Sleep apnea: frequently asked questions with answers

Does sleep apnea run in the family?

The short answer to this question is: Yes, obstructive sleep apnea is partly hereditary and may run in the family. But this is the overly simplified answer. Unfortunately, nothing about sleep apnea is simple.

OSA is a condition that may be inheritable from first degree family members. For example, children can inherit from their parents their facial features, anatomical characteristics of the upper airway muscles, high body-mass index and tongue size. The anatomy of the tongue may be passed through in family history and lead to developing OSA as the tongue affects the apneic collapse of the soft tissues in the upper-airway during sleep.

The longer answer to this important query, however, needs to be grounded on scientific examination and genetics studies providing  concrete results. This is what this article will explain today—the scientific approach to examining the correlation between OSA and genetics, and how exactly that relates to the broader field of study on sleep disorders up until 2020.

Inheritance across age groups and populations

Sleep disorders are present in all age groups and populations, with a strong evidence of genetic inheritance in disorders like narcolepsy and restless leg syndrome. In the case of obstructive sleep apnea the inheritance pattern is still to be defined. And while the genetic etiology of sleep apnea remains rather unclear, sustainable progress in regard to establishing a relationship between apnea and our genes has been made in recent years, with plenty of scientific data to back that up.

We have already exhausted the topic of risk factors in OSA cases, such as middle age, obesity and gender. The approach to establishing heterogneity and etiology in regards to OSA rests on scientific evidence acquired from documented studies with thousands of volunteering participants across all ages and gender, many of which suggest that the genetic component of OSA in the range of anything between 0 and 40%, while the rest remains in the graph secondary factors.

Inheritance pattern in first-degree relatives

The genetic predisposition in developing sleep apnea still remains largely undefined, in spite of the thousands of conducted studies during the last three decades. Today the inheritance patterns in obstructive sleep apnea (OSA) point to a relation between first-degree relatives with OSA and the presence of the disorder in siblings and children, where the risk of developing apnea is around 50% and greater.

As multifunctional sleep disorder OSA does have a heritable dimension researched primarily through field synopsis and genetic association examination of focus groups of participants. Conducting genetic association OSA studies aims at identifying odds ratios while exploring the connection between population-based and family-based testing. The results try to find an inheritance pattern of OSA by utilizing the existent findings in the developing field of OSA genetics through complex genotyping methods and broad genetic testing.

Genetic inheritance in obstructive sleep apnea.

Genetic sleep apnea testing

Genetic sleep apnea testing analyzes alterations in chromosomes, genes, or proteins in OSA sufferers in order to confirm or exclude a genetic predisposition to the disorder. This type of testing examines the possibility that the patient developed OSA partly due to genetic passing. The methodology utilized in genetic testing is based on gene, chromosomal and biochemical gene tests.

  • Gene tests examine the possible variations and mutations in the lengths of DNA that could cause the disorder;
  • Chromosomal tests examine long lengths of DNA or chromosomes in an effort to detect major genetic alterations that could lead to the disorder;
  • Biochemical gene tests, examine how proteins behave and if they could change the DNA and lead to OSA.

Genetics of neck circumference and OSA explained

The relationship between neck circumference, general obesity and OSA is one of the most well-documented ones to this date. Nine in ten  sleep apnea tests asks the same question: ‘Is your neck circumference greater than 17 inches (men) / 16 inches (women)’?

Obesity index, soft palatal length and palate-to-spine angle are constantly studied through research to drive a meaningful correlation between these factors and obstructive sleep apnea. Studies have found that the link between anatomical features and OSA is not as important a factor as neck circumference.

The OSA inheritance factor in obese children

The genetic predisposition and general cause for developing obstructive sleep apnea in children relies on a variety of different factors–both anatomic and neuromuscular. Susceptibility to obstructive sleep apnea in children has proven extremely difficult and is still reliant on future studies and technological advancement. So far studies have shown that children can inherit their parent’s facial anatomy, such as large tonsils and large overbite and chin, which are factors for developing OSA.

Understanding the genetic risk factors as the first step to OSA prevention

In order to encourage early diagnosis and prevention, predictive models in genetic and phenotypic studies need to be established beyond the only suggestive framework of the current results. Steps in OSA prevention can help reduce morbidity and hesitance in the public’s approach to obstructive sleep apnea early diagnosis and treatment by educating the most genetically exposed groups of the population about the risks. The ultimate goal is to reach a proven prescriptive framework that would steer prevention and underline the benefits of early lifestyle changes reducing the chance of developing the disorder in the first place.

Why is it so difficult to understand if OSA is inherited or not?

Just like any other field of study focused on underpinning sleep disorders, genetics research of OSA is focused on early recognition and meaningful results that would increase public awareness about apnea. Until this happens, the genetic foundation of obstructive sleep apnea (OSA) still needs to be established. The difficulty in effectively studying if OSA is hereditary comes from the fact that, so far, physiological metrics across a sufficient range of genetic and phenotypic markers and participants is too costly and invasive to acquire.

The problem with the majority of genome-wide association studies trying to touch upon this extremely challenging topic is that they still remain suggestive instead of conclusive, and that most of them have not been consistently replicated.

The future of OSA genetics studies

Even with large numbers of patients taking participation in OSA studies, coverage across a wide gene region is problematic in regards to obtaining a solid statistical framework in regards to sleep apnea and its genetics origins—especially results that are robust to alternative genetic models. Genetic studies in OSA up to 2020 only find a small non-overlapping relation, without covering enough gene variants to identify a more solid ground for a positive association between the human gene and OSA. Such associations are still subject to variables posing a significant challenge to the global concern that is OSA.

 

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Top 10 Signs of Sleep Apnea

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Picture this. You wake up in the morning with the feeling that you didn’t sleep at all. Something was just wrong. You know you snore a lot, but snoring can’t be blamed for that, right? Well, no. But loud snoring and inability to get a good night’s sleep can definitely be a telltale sign that there is an underlying cause for both. There is a range of symptoms that can give away that there is something wrong with your sleep at night. Today we grouped them in a neat collection of top 10 sleep apnea signs that you may not be aware about. Read on to learn more about this serious sleep disorder.

More than simple snoring

 

You may be surprised how many people feel what we just described above. The fact is that more than a quarter of adults experience the same signs and symptoms that you may have experienced. Al lot of these are possible telltale signs of obstructive having sleep apnea (OSA).

The scary part is that you may be suffering from sleep apnea without even realizing it. If you happen to experience the following symptoms, chances are that you actually do have OSA.

 

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The top 10 signs of Obstructive Sleep Apnea

If you experience one or more of these symptoms on a regular basis, schedule an appointment with your doctor to understand the underlying cause. Here are the top 10 ten sleep apnea symptoms that you should know about:

 

  1. Loud snoring;
  2. Episodic stops of breathing and awakenings during sleep;
  3. Morning headaches;
  4. Waking with a dry mouth;
  5. Increased blood pressure;
  6. Low blood oxygen levels;
  7. Having trouble focusing;
  8. Daytime sleepiness and fatigue;
  9. Daytime irritability and mood swings;
  10. Inability to get a good restorative sleep (no matter how many hours of sleep you get).

Loud snoring

Many people snore regardless of age and gender. Although not every heavy snorer has obstructive sleep apnea, the majority of OSA sufferers are also loud snorers. In fact, loud snoring is the most frequent telltale sign of sleep apnea. That is because with sleep apnea your upper airways become obstructed at night, which contributes to heavy snoring. The OSA obstruction, combined with a narrowing of the airways, creates the snoring sound that your bed partner might have become all too familiar with.

Episodic gasping for air during sleep

The meaning of the term ‘apnea’ (apnoea, Greek) means a temporary cessation of breathing during sleep. When the breathing cessation occurs, it is up to your brain to immediately understand what is happening to your body and send a panic signal to it to resume your breathing. This panic signal causes the lungs to emergency activate again, making you choke or gasp for air as your body overcomes the apnea. For as long as you experience the obstructions, these brain-stimulated micro-awakenings are going to happen. And they’ll continue to make you gasp for air again and again throughout the night–until the morning clock rings and it’s time to go out of bed and deal with the aftermath.

 

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Waking with a dry mouth

A combination of snoring and sleep apnea most often leads to waking with a dry mouth. And, dry mouth comes with its own group of additional complications–like sore throat, bad breath, and constant thirst. Studies have found that 1 out of three OSA sufferers that don’t use a CPAP machine experience dry mouth symptoms in the morning. On the other end of the spectrum, the majority of CPAP users stop experiencing early morning dry mouth due to their PAP devices do not even allowing the OSA obstruction to happen in the first place. What’s more, many of the contemporary CPAP devices have built-in humidifiers that prevent dry mouth.

 

Sleep apnea - dry mouth sign

Trouble concentrating

Starving the brain out of oxygen during apneic events inevitably affects brain function, research has shown. Studies have also shown a correlation between healthy brain chemical levels and OSA, with altered levels leading to having difficulty concentrating and memory problems.

In short, if you don’t get enough restorative sleep, your brain can’t adequately regulate the required chemicals for full cognitive functionality. This is especially true in regards to the required levels of gamma-Aminobutyric acid (GABA). GABA is the chemical responsible for staying calm and focused.

Studies have found that sleep apnea also affects the levels of glutamate, which is responsible for normal brain function.

 

Obstructive Sleep Apnea sign: trouble concentrating.

Increased blood pressure and low blood oxygen levels

Sleep apnea causes extreme pauses in breathing during sleep. Each of these pauses causes a sudden drop in blood oxygen levels, and puts additional stress on the cardiovascular system.

During these pauses, the brain sends signals to the blood vessels to in crease the oxygen delivery to the heart so that your organism can compensate for each drop. However, the sudden increase of blood flow puts pressure on the blood vessel’s walls, which, in turn, increases the risk of high blood pressure (hypertension).

 

OSA and hypertension relationship informational text.

Morning headaches

Starving the brain of oxygen during apneic events causes the arteries to dilate to increase blood flow. The dilation naturally increases the exerted pressure in the head which, in combination with constantly interrupted sleeping cycle, causes morning headaches.

 

A sleepy cat with sleep apnea.

Daytime sleepiness and fatigue

Feeling tired all day after a ‘normal’ night with sleep apnea is one of the most common symptoms of the sleep disorder–and one of the most debilitating ones, too. In fact, any sleep-disturbing disorder comes with daytime fatigue. Your body simply cannot get the rest it needs.

Irritability and mood swings

Sure, you had a bad night of snoring and gasping for air all the time. But no one would really understand that–especially if you are constantly cranky and irritable around them. Trying to explain that your bad mood is caused by lack of a good night’s sleep and because your brain doesn’t receive much GABA chemicals is definitely an option, but hands down the best thing you can do is take action see the doctor.

Constant awakenings at night

Waking too often at night? Having to go the bathroom in the middle of your REM sleep? These are yet another ‘pleasant’ symptoms going hand in hand with sleep apnea. Irregular breathing and loud apneic snoring would most likely interrupt your sleep (and, unfortunately, your bed partner’s sleep as well).

Increased stress levels and increased risk of depression

Decreased blood oxygen levels and impaired cardiovascular system leads to extra exertion on your body, high blood pressure and high stress levels. New studies have shown that patients with obstructive sleep apnea have higher levels of the neurotransmitter glutamate and low levels of the GABA neurotransmitter. Dysfunction of glutamatergic neurotransmission is considered to be a core feature of stress-related mental illnesses.

 

 

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In almost any list of top 10 sleep apnea symptoms one can run into loud snoring, breathing pauses, sounds of choking or gasping for air during the night, daytime fatigue and more. The point of this informational article, however, is not just to list these signs of OSA, but to convey the idea that none of these symptoms is something you should tolerate and live with. So take matters into your own hands and make an appointment with a sleep specialist who can diagnose you and recommend treatment options for sleep apnea if you indeed have one.

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Sleep Apnea: Frequently Asked Questions & Answers

Sleep apnea FAQ 2019

What is sleep apnea?

Sleep apnea is a serious sleep disorder in which breathing periodically stops and resumes when the person is sleeping. The most common form of the disorder is Obstructive Sleep Apnea (OSA), with an estimated number of more than 100 million people over the world suffering from it. Most of those people do not even know that effective treatment is available.

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CPAPEuropa: The Latest in CPAP & Oxygen Therapy

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Thank you for visiting our CPAP and oxygen therapy shop. We offer a wide range of CPAP sleep therapy products for sleep apnea patients at the lowest possible prices you can find online. Here you can find everything you’ll ever need to effectively treat your condition, whether it is sleep apnea or HOBB. If are looking for something specific, please e-mail or give us a call and our assistants will contact and help you as soon as possible.

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