Neurological

Lack of knowledge about idiopathic hypersomnia often leads to misdiagnosis

Idiopathic hypersomnia (IH) is a chronic neurological sleep disorder that causes excessive daytime sleepiness, although a person can get adequate or typically long sleep (more than 9 to 10 hours in a 24 hour period). People with IH often have difficulty waking up even after they have set multiple alarms, and they also have difficulty getting out of bed (sluggishness). You can start the day extremely dazed (sometimes referred to as drowsy) and may experience significantly reduced concentration and concentration while you are awake (brain fog)

People with IH often live long periods of time without a proper diagnosis, blame themselves, and struggle to keep up their jobs, studies, and relationships.1 The Hypersomnia Foundation and Jazz Pharmaceuticals plc joined forces to promote the “I Have IH” awareness campaign to increase awareness and knowledge of IH within the health and sleep community. To better understand doctors’ understanding of the sleep disorder, the Hypersomnia Foundation and Jazz Pharmaceuticals conducted a survey of 305 health care providers to measure their perception and knowledge of IH.

This survey was conducted online by Toluna Analytics between February 5 and 12, 2021 among a representative sample of 305 healthcare providers nationwide. The cohort included self-identified sleep specialists (n = 4), neurologists (n = 67), psychiatrists (n = 82), pulmonologists (n = 90) and general practitioners (n = 62). About 49% were certified in sleep medicine. There were 148 sleep doctors and 157 non-sleep doctors among the health care providers who participated in the survey

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We spoke to Richard Bogan, MD, FCCP, FAASM, Associate Clinical Professor at the University of South Carolina School of Medicine and Chairman and Chief Medical Officer of SleepMed Inc., a sleep diagnostics company, to learn more about IH.

Can you describe the multidirectional relationship between hypersomnolence, mood disorders, and hypersomnia disorder?

Richard Bogan, MD, FCCP, FAASM

DR. BOGAN: It’s complicated because a lot of people are sleepy and generally around 30% of the adult population will have symptoms of sleepiness at some point, but there is a subset of people who have what is known as central hypersomnolence. These are people who are sleepy no matter how much sleep they get. The classic [group], of course, consists of patients with narcolepsy. But we have a different group of people who have idiopathic hypersomnia. These individuals tend to have long periods of sleep, or if they have normal periods of sleep, they may experience sluggishness.

In other words, it is really hard for them to wake up, and when they wake up they are foggy and take a long time to warm up their brains even though they have had ample opportunity to sleep and in some cases, long sleep. You can sleep 10, 11 or 12 hours and wake up and still be foggy and sleepy. Of course, sleepy people have problems with executive function and thinking, memory, and mood, so they may have more irritability and less motivation.

Many of them are mistaken for mood disorders. Of course, some of them develop mood disorders because they are sleepy and tired and unable to get things done, so they have problems with their social interaction and performance in the workplace. As a result, many of them develop comorbid mood disorders.

I see a lot of my patients who have psychiatrists or behaviorists, psychologists working with them to help them with their coping strategies and mood, but I think the answer is that we have a subset of individuals that no matter how much sleepy are sleep they get, and one of the most common ways they present is that many people think they are depressed when they are not actually depressed.

It appears that some hypersomnia disorders can sometimes experience a significant diagnostic delay. Is there any way doctors can better screen patients for these conditions?

DR. BOGAN: One factor in understanding the disorder is that it tends to affect more women and more young women to begin with. In many of these people, especially in narcolepsy, but also in idiopathic hypersomnia, it typically begins in young adulthood. This can happen at any time, of course, but often it happens that people are sleepy at first and then develop mood disorders so they may be anxious or depressed, in part related to their poor performance because they are sleepy. So I think it’s important to understand the passage of time.

But more importantly, I think you have to realize that the individuals are sleepy. You are not just tired. You can’t even be depressed. You are just tired. When you are depressed I think it is important to realize that you are sleepy and that is why I say when you have a person who has problems with executive function, thinking, memory, concentration, attention, or mood disorder , Has depression, anxiety, cognitive decline, memory problems, etc., and then determine whether or not they are sleepy. If they are sleepy it can explain their symptoms and we can usually define what is causing their sleepiness. Helping sleepiness helps with many other symptoms.

I really recommend that you qualify whether the person is sleepy or not and quantify how sleepy they are. One way to do this is to take a patient reported outcome measurement. We used the Epworth score. There are others, but the Epworth Score is a simple 8-question questionnaire and the majority of these patients will get abnormal results. You will be measurably sleepy compared to the general population, and there is that “a-ha” moment.

I have a patient who was depressed, anxious and had trouble sleeping, but his sleep score is high. They score 16, 17, 18 out of 24 while I’m normal with a 6 on my Epworth score. I know right away that this person is sleepy if they are over 10, which suggests something is going on, and I need to deal with this and find out why.

What makes it so difficult to diagnose IH?

DR. BOGAN: I think it’s because the timing of onset tends to be in younger adults and the sleep disorder also affects more women than men. These people can still function because the brain is awake during the day and they sleep at night, but they have terrible sleep indolence and then struggle with sleep during the day. They either doze off spontaneously or can do things, but they are sleepy. Most people probably don’t realize they are as severe as they are because they get through it. But at some point something will happen that tells them I’m more sleepy than the rest of the world. Something is going on here.

They often go to their GPs and get angry about an underactive thyroid or are treated for mood disorders because they are considered depressed. You look normal. They don’t look unusual. They don’t look sleepy in the office so we tend to underestimate them and if you don’t ask how sleepy you are, you may not get the correct diagnosis. Questions like: Do you fall asleep spontaneously when you are inactive? Are you fighting against sleep? Do you sleep every day When you take a nap, are you napping long? Do you feel refreshed when you wake up after a nap? These are things that these people have. You are not refreshed. You have sluggishness. It takes a long time for the brain to warm up and sometimes they are viewed as lazy because they cannot wake up in the morning. You set two or three alarm clocks, oversleep the alarm clock and miss your work. These are often attributed to personality traits or laziness etc and then they are treated for depression and it is really idiopathic hypersomnia.

Are some of the criteria you mentioned for IH also applicable to other sleep-wake disorders? For example obstructive sleep apnea.

DR. BOGAN: I don’t think they’re similar because it’s uncommon for a pre-menopausal woman to have sleep apnea, but you can have it. Do you snore? No, they don’t snore, but they are still sleepy. Many people with sleep apnea do not experience sleep indolence. In other words, people with IH can wake up still tired and not necessarily refreshed, and they tend to be sleepy during the day. These people have a hard time waking up in the morning while someone with sleep apnea has an alarm clock ringing, they wake up and go. They say, “Wow, I’m still tired,” but they can wake up. You don’t have this prolonged sleep indolence.

Certainly other sleep disorders also flow into the differential diagnosis, so you obviously want to ask about snoring. If a person is obese they may be at higher risk, but premenopausal women are reasonably protected against sleep apnea.

Insufficient sleep is another, but these people will tell you that, usually unless they are unusually stressed or in pain or whatever, they can fall asleep immediately and sleep for hours and still not be rested. That’s the tip.

To learn more about idiopathic hypersomnia and related disorders, go to https://www.hypersomniafoundation.org.

reference

  1. What is idiopathic hypersomnia? Hypersomnia Foundation. Retrieved May 26, 2021 https://www.hypersomniafoundation.org/
  2. Investigation of the medical perspective of idiopathic hypersomnia. Hypersomnia Foundation / Jazz Pharmaceuticals. Retrieved May 26, 2021. https://www.multivu.com/players/English/8830051-jazz-pharmaceuticals-hypersomnia-foundation-i-have-ih/#lg=3&slide=0

This article originally appeared on Psychiatry Advisor

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