Excessive sleepiness is the defining characteristic of hypersomnia disorders, but there is much more to understand about the category than its main symptom. A sleep disorders advocate explains why distinguishing between primary and secondary hypersomnia is crucial to diagnosing and treating patients appropriately.
There are several different disorders of hypersomnia, all of which have the same primary symptom: excessive sleepiness. Such excessive sleepiness significantly impacts quality of life in these patients. Mundane tasks like cleaning, taking a shower, and going to the store for milk become monumental tasks that use all of their energy and push these patients to nap during the day. Patients may be unable to maintain employment due to hypersomnia.
It is important to understand that there are two prevalent types of disorders in this category: primary hypersomnia and secondary hypersomnia. Importantly, the causes and treatment options of each type are distinct.
Primary Versus Secondary Hypersomnia
Secondary hypersomnia is a symptom of another medical condition. The patient may have constant sleepiness in the acute stages of the disease process and later in the process the symptoms can change.1 Hypersomnia patients can have normal days and even experience insomnia at times. A vast array of medical conditions can cause secondary hypersomnia, including renal, hepatic, circulatory, endocrine, neurological, metabolic, psychological, and meningo-encephalitic disorders. Other causes include sleep disorders, particularly restless legs syndrome, periodic limb movements, insufficient sleep, apnea, and uncontrolled circadian rhythm disorders. If the primary disorder can be eliminated, then secondary hypersomnia goes away.
Actor Robin Williams had secondary hypersomnia due to his Parkinson’s diagnosis and depression. Williams slept up to 18 hours a day for months. Before his death, he had a hard time getting out of bed and suffered from loss of appetite.2 His story reminds us of what can happen if hypersomnia is overlooked and not treated. Whether patients have a physical or psychological disorder, the symptoms will get worse if the person’s secondary hypersomnia is not addressed.
By contrast, primary hypersomnia is diagnosed when there is no known cause for severe long-term excessive daytime sleepiness. Disorders such as idiopathic hypersomnia, Kleine-Levin syndrome (KLS), and menstrual-related hypersomnia fit into this category. These three types of primary hypersomnia are explained further in the section below. Primary and idiopathic hypersomnia are often used interchangeably, but they should not be. This improper usage can be especially confusing to people who aren’t familiar with the disorders.
Types of Primary Hypersomnia
Idiopathic hypersomnia is a clinical entity that has a small list of specific symptoms. The most important symptom is extreme daytime sleepiness that never ceases.3 Even though the patient’s nighttime sleep is virtually perfect, patients feel like they haven’t slept in days. Idiopathic hypersomnia patients often have deeper sleep than the average person and will sleep 10+ hours a day. They may enter stage 3 and 4 sleep more quickly than most people. REM is still within normal limits and there aren’t frequent awakenings. Many patients have what’s called “sleep drunkenness,” in which they are in an alternate stage of consciousness for up to 4 hours upon awakening. These patients are not quite awake and are in and out of stage 1 sleep. Patients can be irritable or violent, fall back to sleep repeatedly, walk into walls, slur their words, and generally act inebriated.4 Sleep drunkenness can happen when waking up from a nap as well. Patients can sleep anywhere from 10 to 21 hours a day every day for years. It’s possible to stay awake past the point of exhaustion, but eventually the patients succumb to the intense sleepiness.
Kleine-Levin syndrome is a recurring primary hypersomnia where patients have episodes of severe sleepiness in which they can sleep all day and only awake to eat or go to the bathroom. These patients can have clear triggers and usually know when an episode is coming and ending because their symptoms change. After the episode, they may have a period of insomnia and then go back to living a normal life until the next episode. Length of episodes can be anywhere from a few days to over a year.
KLS is a devastating disorder that differs from idiopathic hypersomnia in several key ways. Patients with KLS usually awake from an episode with little to no memory of the time that has passed, whereas patients with idiopathic hypersomnia wake up and might wonder what day it is but still know approximately what the date is. KLS symptoms can differ in males and females, but idiopathic hypersomnia is the same for both sexes. Patients with KLS have distinct polysomnography (PSG) results both in and out of episode, whereas idiopathic hypersomnia patients have consistent results. Patients who are diagnosed with KLS are often treated with lithium or other medications that don’t help other hypersomnia patients.5
Menstrual-related hypersomnia is diagnosed when excessive daytime sleepiness occurs preceding menstruation. Usually sleepiness occurs several days beforehand, but it can happen during or after menstruation as well. It’s thought that menstrual-related hypersomnia has to do with hormone levels, particularly progesterone and/or estrogen.6
Perspectives on Hypersomnia
Hypersomnia was extensively studied by Bedrich Roth from 1946 to 1980. At the time, Roth had the largest hypersomnia patient database in the world. It was Roth who discovered that idiopathic hypersomnia was a distinct clinical entity that was different from other disorders of hypersomnia.1 He noted that idiopathic hypersomnia was not a catch-all diagnosis for those who don’t have narcolepsy. Somehow that observation has been lost over the years.
Idiopathic hypersomnia is often compared to narcolepsy, but the disorders are markedly different. PSG studies show that narcolepsy patients quickly fall into REM sleep, whereas idiopathic hypersomnia patients can quickly fall into NREM sleep. Idiopathic hypersomnia patients have perfect nighttime sleep, and narcolepsy patients often have frequent awakenings and insomnia. People with narcolepsy tend to wake up from naps refreshed, whereas people with idiopathic hypersomnia still feel like they haven’t slept. Patients can have diagnoses of narcolepsy and hypersomnia but cannot have both idiopathic hypersomnia and narcolepsy.
All hypersomnia spectrum disorders need more research and better treatment options. These devastating disorders affect quality of life, not just for patients but their families as well. Many patients cannot work, and those who do struggle immensely. There are no FDA-approved treatments for hypersomnia, KLS, or idiopathic hypersomnia, which means that insurance companies can refuse to pay for treatment and dictate which medications patients have to take—even if those medications don’t work for the patient. Treatments for hypersomnia-related disorders focus mainly on stimulants, but one of the biggest issues with taking stimulants is the eventual tolerance that develops. Then patients either have to find new medications or take “medication holidays,” in which they stop taking the stimulants for a period of time to see if the medication will start working again. This requires taking time off work or school with no guarantee that the stimulant will work when restarted.
David Rye, MD, and Andrew Jenkins, PhD, from Emory Sleep Center have been researching an endogenous somnogen that is found in many hypersomnia patients’ spinal fluid. Their finding that flumazenil, a medication used to bring patients out of anesthesia, has provided promise of a potential treatment to the hypersomnia community. Flumazenil is currently in phase 3 of clinical trials.
Patients and providers alike are confused by the different disorders of hypersomnia. PSG and Multiple Sleep Latency Test (MSLT) studies can help diagnose these disorders, but that alone isn’t enough to distinguish between them. Because there are no quick diagnostic answers and very little research on the topic, patients have suffered. It has resulted in some of the leading sleep disorder researchers writing their own definitions or grouping all of the disorders of hypersomnia together. It has also led to research papers not separating idiopathic hypersomnia and hypersomnia. Hypersomnia patients truly are the forgotten patients in sleep medicine.
Kasha Oelke is a sleep advocate as well as an idiopathic hypersomnia and sighted non-24 patient. She runs the website www.hypersomnia.info.
REFERENCES
1. Roth B, Broughton R. Narcolepsy and Hypersomnia. 2nd ed. Basel, Switzerland: S. Karger AG; 1980: XII:193-95, 209:213-17.
2. Dillon N, McShane L. Robin Williams spent final days in darkened bedroom as depression worsened; friend Rebecca Erwin Spencer found his body. New York Daily News. http://www.nydailynews.com/entertainment/robin-williams-friend-rebecca-erwin-spencer-found-body-suicide-article-1.1901705. August 13, 2014.
3. American Academy of Sleep Medicine. The International Classification of Sleep Disorders: Diagnostic & Coding Manual. 2nd ed. Westchester, Ill: American Academy of Sleep Medicine; 2005: XVIII:297.
4. Roth B, Nevsimalova S, Rechtschaffen A. Hypersomnia with “sleep drunkenness.” Arch Gen Psychiatry. 1972;26:456–62.
5. Arnulf I, Zeitzer JM, File J, Farber N, Mignot E. Kleine-Levin syndrome: a systematic review of 186 cases in the literature. Brain. 2005;128(Pt 12):2763-76. Epub 2005 Oct 17. Review.
6. Dauvilliers Y, Buguet A. Hypersomnia. Dialogues Clin Neurosci. 2005;7(4):347–56.
Thank you for this very well-informed and accurate article on sleep disorders! This is a great resource for educating people who live with or work with hypersomnia patients. I will be forwarding this article to my daughter who suffers from Idiopathic Hypersomnia to share with her friends and teachers.
Thank you, Bonita! I hope this article helps your daughter’s friends and teachers understand her condition better.
comparing narcolepsy with ideopathic hypersomnia – you have to differ between narcolepsy type 1 (with cataplexy) and type 2 (without cataplexy)
current research suggests, that narcolepsy type 2 pathology is closer to ideopathic hypersomnia than to narcolepsy type 1
the traditional diagnostic distinction by sleep onset REM-episodes with multiple sleep latency tests is being critized more and more
one future categorial change might be the (primary) hypersomnia differentiation in two main groups: hypocretin deficiant hypersomnias (former narcolepsy type 1) ones and GABA-A receptor hyperactive ones (formeer narcolepsy type 2 and ideopathic hypersomnia)
I specifically did not go into details about narcolepsy type 1 and 2 because there needs to be more research on the topic in regards to the speculation that narcolepsy type 2 and hypersomnia are in fact the same disorder. The somnogen affects GABA B, not GABA A receptors. Being diagnosed with the somnogen does not make a person’s diagnosis idiopathic hypersomnia, it makes it hypersomnia.
No:
(1)
It is indeed the G A B A – A receptor, the publication:
D.B. Rye, D.L. Bliwise, K. Parker, L.M. Trotti, P. Saini, J. Fairley, A. Freeman, P.S. Garcia, M.J. Owens, J.C. Ritchie and A. Jenkins. Modulation of vigilance in the primary hypersomnias by endogenous enhancement of GABA(A) receptors. Science Trans. Med 4, 161ra151 (2012).
(2)
P r i m a r y H y p e r s o m n i a is the overall category, (currently) including narcolepsy type 1, narcolepsy type 2, idiopathic hypersomnia (and Klein-Levin-Syndrom usw.)
Vgl.
http://www.hypersomniafoundation.org/understanding-hypersomnia/
In the study mentioned above, they found found the GABA-A effect – and potential treatment by GABA-A antagonists like Flumanzenil – exactly for those groups, where there has been no biological indicator so far: narcolepsy type two and idiopathic hypersomnia (some with long sleep and some withou long sleep for the later category).
In further studies the research group showed the similar pahtology and potential treatment for Klein-Levin-Syndrom.
Your comment is a bit hard to read so I can’t really respond except to say that one study doesn’t make it fact. There needs to be multiple studies from different institutions and input from the AASM on the topic. It’s not up to me to make that decision, hence why I left that information out of the article.
The paper “Modulation of vigilance in the primary hypersomnias by endogenous enhancement of GABA(A) receptors” and subsequent work by Emory researchers does *not* provide a cause that can be applied to *all* Hypersomnia that does not fit Narcolepsy type 1 (Narcolepsy caused by hypocretin deficiency) so unfortunately your idea below is flawed.
“one future categorial change might be the (primary) hypersomnia differentiation in two main groups: hypocretin deficiant hypersomnias (former narcolepsy type 1) ones and GABA-A receptor hyperactive ones (formeer narcolepsy type 2 and ideopathic hypersomnia)”
Emory’s research also does not provide any evidence that narcolepsy type 2 (without cataplexy) is more similar to *all* idiopathic hypersomnia. Indeed current research in the form of a cluster analysis produced by Karel Šonka, Marek Šusta and Michel Billiard, “Narcolepsy with and without cataplexy, idiopathic hypersomnia with and without long sleep time: a cluster analysis” clearly shows that while narcolepsy type 2 maybe more similar to monosymptomatic hypersomnia it is *not* similar to polysymptomatic hypersomnia.
“Highlights from the study:
•Hierarchical cluster analysis reviewed the classification of central hypersomnias.
•Narcolepsy with cataplexy and idiopathic hypersomnia with long sleep time constituted independent clusters.
•Narcolepsy without cataplexy and idiopathic hypersomnia without long sleep time entered into the same cluster.
•Narcolepsy without cataplexy and idiopathic hypersomnia without long sleep time should merge into a single condition.”
http://www.hypersomnolenceaustralia.com/210919920/2745907/posting/research-confirms-idiopathic-hypersomnia-with-long-sleep-not-the-same-disorder-as-without-long-sleep
Apart from the fact that Emory’s research leaves a great many people with Hypersomnia without a cause (ie: they are not GABA-A receptor hyperactive or hypocretin deficient) it should be remembered that Emory’s research studies have been extremely small and have not been replicated outside of their lab. While their work provides promise for some people with regards to aternative treatment options there is a long way to go before it can be considered a scientifically proven cause for anything more than Hypersomnia (which is a symptom *not* a medical disorder). Therefore Kasha is correct in saying that testing positive for GABA A hyperactivity does not confirm you have the medical disorder Idiopathic Hypersomnia, at best it confirms you have Hypersomnia.
Just a note on GABA, there’s a rare condition called SSADH deficiency (Succinic semialdehyde dehydrogenase). Its an enzyme deficiency in GABA degradation. Succinic semialdehyde accumulates and cannot be oxidized to succinic acid and is therefore reduced to GHB (think of someone being roofied and date rape type sedation..).
People have high levels of both GABA and GHB. But depending on the extent of the deficiency there’s a huge variation of severity and symptoms from mild to fully disabled..
Does anyone have knowledge of or can provide any reputable resources regarding clinical trials/ studies participation? And/or links for directing those seeking help/ specialists specific to hypersomnia (primary & secondary, idiopathic, etc.)? I’m sure there are numerous available; I’ve personally found an overwhelming amount of Google results, however I’m kindly requesting any recommendations by those on this particular thread, that I have found very interesting & informative. -Thank you in advance.
Hi Jennifer, i have IH with long sleep time and am in the IH Facebook group. I find it very helpful and it’s truly a lifesaver some days. I currently only know of Dr Rye in Atlanta, GA who’s doing the flumazenil study i believe at this time. I had tried Clarithromycin without the end result i had prayed for. Idk if this helps… Take care
I was misdiagnose with Narcolepsy and now they are telling me I have Idiopathic Hyperinsomnia. My problem is that I don’t sleep at all, I go days without any sleep, my memory is so bad, a burned myself twice, had a car accident and almost burn my house. I am so so exhausted and my doctor said I have depression, any help here, please.
Hi,
Can anybody help me.
I am 50 years old and have suffered with chronic sleepiness for 24years. I am currently awaiting the results of a sleep study. I have previously been diagnosed with chronic fatigue syndrome but my symptoms just do not fit this diagnosis. It doesn’t matter if I sleep for 2 or 22 hours, I feel just as sleepy. I set 4 alarms each morning and manage to sleep through all of them. My partner struggles to wake me. He says I often appear as though I’ve been drinking as I mumble jibberish. If he wakes me and leaves the room, I go back to sleep and have no recollection of him waking me when I finally wake up. I never, ever have a refreshing sleep, even daytime naps leave me very sleepy. I find if I’m working to time constraints and I’m against the clock I can function, but literally the second I stop I feel like I’m enveloped in a dreadful foggy urge to sleep. It is a constant battle to stay awake. I have worked full time up until 6 months ago. Even though this was a struggle, it gave me a regular routine to work to. Now I am self employed (beautician) and only have to leave the house at certain times, I am finding the urge to sleep overwhelming. The problem is, if I give into this and nap, I usually sleep for about 4 hours. My brain feels Woolley all the time. My memory is appalling, my concentration is terrible. I find it difficult to follow written instructions. I yawn constantly throughout the day (in excess of 100 times). I’m desperate for some advice. I think I may have idiopathic hypersomnia but I may have to speak with my consultant over my concerns..thank you in advance for your help x
Hi,
I have recently been diagnosed with IH. Reading about your symptoms was like reading someone writing about my life. I would definitely recommend you see a sleep specialist, if you haven’t already.
Good Luck!
Hi Amanda,
Yes, this was what I was like too. Ask/beg for a MSLT so they can see exactly how tired you are in the day. After many years of being told its depression, or being a working mom, or everyone is tired, or I need to eat better, excercise more so on and so on, my daytime sleep study showed how tired I am. I slept at every nap (after the nighttime sleep study showed I slept fine) and fell asleep within 2 mins at each nap.
Hi, Amanda- reading your comment was almost like reading my own mind, except that I was only diagnosed with Narcolepsy with cataplexy and didn’t have a subsequent sleep study that denied that DX. But everything you mentioned going through, I just can relate to so much, and even though my narcolepsy is supposedly treated with stimulants, Xyrem, and the list goes on, I literally cannot stop sleeping long enough to get anything done, unless, like you, there is something super important and I’m fighting against the clock, and then I think it’s just a matter of fight or flight that takes over and allows me to somehow get through it, although often I’m late for planned events. I wish there was an answer, because it is getting so much more difficult to function as a human being, as a mother, especially since I can’t really make plans for anything, because I’m terrified that I won’t make it on time, or that I’ll sleep through it entirely. But I just wanted you to know that my heart goes out to you, and you are not alone sweetie.
My sleep specialist seems to think that after 10 yrs on a CPAP, I should now use a BiPap and that once I have a ‘good nights sleep’, My IH will drastically improve. Where do they get this? I have no sleep interruptions. I sleep usually 7-8 hrs. She keeps holding back on trying something other than Nuvigil until she feels I am getting ‘good sleep’ at night. Having a poor nights’ sleep makes everyone drowsy and slow the next day. THAT is not the same thing. IS there any correlation shown with CPAP’s and IH ?
Hi Carolyn,
My doctor put me on CPAP even tho my numbers indicated I was very low on the scale. Of course, it didn’t help my tiredness at all since I don’t have sleep apena. I’m not sure why some doctors feel the need to throw you on CPAP instead of investigating further. I finally was given a daytime sleep study and found to have Idiopathic Hypersomnia. Maybe you would benefit from MSLT too. It seems like if you are still tired, the CPAP isn’t helping and maybe it isn’t helping because you have a different sleep disorder?
i had 2 sleep studies done a week apart. Th first one clearly said i had narcolepsy. i did the study following that where i had to take naps during the day, to confirm the narcolepsy diagnosis. when i was alergic to nuvigal they did an other test a week after the daytime nap one and it did not show any signs of narcolepsy instead it showed that i had apnea and needed a c-pap. ( no sign of having apnea was on the first 2 tests). when i saw my doctor he said in his 45 years of experiance he has never seen any one like me. he said it looked like 2 tests from compleately diffrent people. i dont use my c-pap as i wrap the tubing around my neck as i sleep. i wonder if i am the only one like me. and what could be the cause. ( more than one Dr has looked at me like im from an alien planet.
well I’m similar to you in that i have mixed apnea and idiopathic hypersomnia together. of course for ages they said that the cpap would fix my EDS but it never did, and then I ended up with a consultant who only treated narcolepsy patients, not IH. a year later I’m now diagnosed and medicated, though not very well. A side thing is that my apnea wakes me most mornings after around 6.5 hrs of sleep. quite regular.