Negative Quality of Life, Poor Diagnosis Rates, and Frustrations With Care Reported in Idiopathic Hypersomnia


Overall, 49% of respondents with idiopathic hypersomnia were reportedly dissatisfied with the management of their condition.

Marisa Whalen, PharmD, associate director, Medical Affairs, Jazz Pharmaceuticals

Marisa Whalen, PharmD

Data from a cohort of nearly 300 surveyed patients with idiopathic hypersomnia (IH) showed that the disease significantly impacts quality of life (QoL) aspects, with several respondents reporting frustrations and inaccuracies with their diagnostic process.1

The findings, presented at the 2022 SLEEP Annual Meeting, June 4-8, in Charlotte, North Carolina, showed that 79% and 19% of patients with IH surveyed (n = 290), respectively, strongly or somewhat agree that their condition has a negative effect on their QoL. Specific QoL impacts (strongly agree) included constantly struggling with maintaining relationships (65%), experienced suicidal thoughts (34%), and chose not to have children (34%).

To further establish the impact of IH on QoL and patient satisfaction with the diagnostic process, a group of investigators, led by Marisa Whalen, PharmD, associate director, Medical Affairs, Jazz Pharmaceuticals, surveyed patients on symptoms, impact, diagnosis, and management. Most of the cohort were women (88%), White (88%), and were between the ages of 25 and 44 years (mean, 38 years). Additionally, 88% had postsecondary education and 63% were employed at least part time.

Self-reported years to IH diagnosis were 0 to 1 (31%), 1 to 2 (16%), 2 to 5 (21%), 5 to 10 (13%), and 10 or more (19%). Overall, 67% reported unreasonable delays to diagnosis (strongly/somewhat agree), 61% reported being misdiagnosed prior to their IH diagnosis, and 49% of patients reported dissatisfaction with the management of their condition (not very/not at all satisfied). Diagnoses of depression/anxiety, sleep apnea, or narcolepsy type 2 were reported by 72%, 25%, and 10% of respondents, respectively; however, these diagnoses were later removed and changed to IH in 26%, 30%, and 57%, respectively.

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In addition to misdiagnosis, 99% of patients experienced excessive daytime sleepiness (EDS), a symptom typically characterized by the disease, 99% felt a reduced mental energy level and motivation to carry out daily activities, and 98% felt as though they never get enough sleep. More than 90% of patients reported that their condition has restricted them from being who they want to be (66% strongly agree, 26% somewhat agree), and is often unrecognized and underdiagnosed (67% strongly agree, 24% somewhat agree). Similarly, responses indicated that most of the patient community of IH believes they are being underserved (67% strongly agree, 24% somewhat agree).

To date, there has been limited research capturing the QoL impacts patients with IH face. In April 2022, results from the real-world ARISE study showed that the sleep disorder is associated with a moderate to severe effect on QoL, demonstrated by responses on patient-reported outcomes. After completing a virtual survey, the cohort of 75 participants with IH demonstrated mean Neuro-QoL scores of 24.9 (±6.2) on social functioning and 19.9 (±6.3) on stigma domains. General and clinical reference scores on Neuro-QoL were 50.4 (±9.6) and 49.7 (±9.5), respectively.2

Part of the issues with QoL for patients with IH may stem from the lack of approved agents. After years of using only off-label, wake-promoting therapies, in August 2021, the FDA approved JZP-258 (Xywav; Jazz Pharmaceuticals) as the first therapeutic to treat the condition. The combination agent of calcium, magnesium, potassium, and sodium oxybates was originally approved for the treatment of cataplexy or EDS in patients 7 years of age or older with narcolepsy in July 2020.3

Click here for more coverage of SLEEP 2022.

1. Whalen M, Roy B, Steininger T. Patient perspective on idiopathic hypersomnia: impact on quality of life and satisfaction with the diagnostic process and management. Presented at: SLEEP Annual Meeting, 2022; June 4-8; Charlotte, NC. Abstract 0392.
2. Schneider L, Stevens J, Husain AM, et al. Impairment in functioning and quality of life in patients with idiopathic hypersomnia: the real-world idiopathic hypersomnia outcomes study (ARISE). Presented at: 2022 AAN Annual Meeting; April 2-7; Seattle, Washington. Abstract 1218
3. Jazz Pharmaceuticals Announces U.S. FDA Approval of Xywav® (calcium, magnesium, potassium, and sodium oxybates) Oral Solution for Idiopathic Hypersomnia in Adults. News release. Jazz Pharmaceuticals. August 12, 2021. Accessed June 4, 2022.
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