Idiopathic Hypersomnia

Abstract

Idiopathic hypersomnia (IH) is a chronic neurological disorder that results in daytime sleepiness, frequently accompanied by long nocturnal or daytime sleep, unrefreshing sleep, difficulty in awakening, cognitive dysfunction, and autonomic symptoms. The cause of idiopathic hypersomnia is presently unknown, although a genetic predisposition is suggested by the strong family history of similar symptoms. Dysfunction of autonomic, inflammatory, or immune systems has been proposed, and patients with IH have been found to have an endogenous modulator of GABA-A receptors within their cerebrospinal fluid. Diagnosis of IH involves a careful clinical history, with particular attention to the possibility of other disorders with similar symptomatology, and objective testing with actigraphy, polysomnography, and multiple sleep latency testing. There are no FDA-approved treatments for IH symptoms, which are typically treated with off-label use of medications approved for narcolepsy. Modafinil is first line and supported by two randomized, controlled trials in IH patients. A substantial fraction of IH patients are refractory or intolerant to standard treatments, and different treatment strategies, employing novel therapeutics, are necessary in these cases. Even with current treatment options, quality of life and safety may remain impaired in patients with this challenging chronic disease.

Update on the Treatment of Idiopathic Hypersomnia

“…In clinical practice, non-pharmacological interventions are the cornerstones of treatment of narcolepsy and IH [9][10][11]. After the diagnosis has been established, the first step is to inform the individual about the disease and its prognosis, as well as to explain the current knowledge of the condition.…”

<p>Living with Narcolepsy: Current Management Strategies, Future Prospects, and Overlooked Real-Life Concerns</p>

“…8 Whether NT2 is an entity distinguishable from idiopathic hypersomnia (IH) is also a topic of intense interest, and although this continues to be debated, some differentiating features have been advanced, eg, more disrupted nocturnal sleep and better restorative response to naps in NT2 than IH. 8,10 Although the exact causes of narcolepsy are still under investigation, evidence points to an immune process that results in damage and/or dysfunction of the hypocretinproducing neurons in the lateral-posterior hypothalamus as a plausible etiology for NT1. 5 Observations that support immune-mediated NT1 pathophysiology include the association of NT1 development with major histocompatibility complex genes, particularly the HLA-DQB1*06:02 allele, 11 influenza A and streptococcal infections, and the Pandemrix H1N1 vaccine.…”

“… 8 Whether NT2 is an entity distinguishable from idiopathic hypersomnia (IH) is also a topic of intense interest, and although this continues to be debated, some differentiating features have been advanced, eg, more disrupted nocturnal sleep and better restorative response to naps in NT2 than IH. 8 , 10 …”

Uyku Bozuklukları: Sınıflama ve Tedavi

“…Gündüz aşırı uykululuk ile birlikte sabah uyanmada güçlük, uyku sarhoşluğu, uzun uyku süresi, dinlendirici olmayan uyku, bilişsel işlevlerde bozulma ve otonomik belirtiler ile karakterize bir hastalıktır 18,19 . Ergenlik ve genç erişkinlikte başlar, en sık 15-30 yaşlarıarasında görülür [20][21] .Patofizyolojisi ile ilgili bilgiler kısıtlıdır.…”

“…Ergenlik ve genç erişkinlikte başlar, en sık 15-30 yaşlarıarasında görülür [20][21] .Patofizyolojisi ile ilgili bilgiler kısıtlıdır. Genetik bir yatkınlık sıklıkla mevcut olup, otonomik, inflamatuar ve immun disfonksiyonun etiyolojide rol oynadığı düşünülmektedir 19,20 . Yaygınlık oranı ile ilgili çalışma yapılmamıştır 20 .…”