Negative quality of life, poor diagnosis rates, and care-related frustrations in idiopathic hypersomnia
Data from a cohort of nearly 300 surveyed patients with idiopathic hypersomnia (IH) showed that the condition significantly impacts aspects of quality of life (QoL), with several respondents reporting frustrations and inaccuracies in their diagnostic process.1
The results, presented at the 2022 Sleep Annual Meeting, June 4-8, in Charlotte, North Carolina, showed that 79% and 19% of IH patients surveyed (n=290), respectively, strongly or somewhat agree that their condition has a negative effect on their quality of life. Specific impacts on quality of life (strongly agree) included ongoing difficulty maintaining relationships (65%), suicidal thoughts (34%) and choosing not to have children (34%) .
To further establish the impact of HI on quality of life and patient satisfaction with the diagnostic process, a group of investigators, led by Marisa Whalen, PharmD, Associate Director, Medical Affairs, Jazz Pharmaceuticals , asked patients about symptoms, impact, diagnosis and management. Most of the cohort members were female (88%), white (88%), and were between the ages of 25 and 44 (mean, 38). In addition, 88% had some post-secondary education and 63% worked at least part-time.
Self-reported years to HI diagnosis were 0-1 (31%), 1-2 (16%), 2-5 (21%), 5-10 (13%) and 10+ (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 being dissatisfied with taking charge 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 replaced with HI in 26%, 30%, and 57%, respectively.
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In addition to misdiagnosis, 99% of patients experienced excessive daytime sleepiness (EDS), a symptom usually characterized by the disease, 99% experienced a decrease in their level of mental energy and motivation to perform daily activities, and 98% felt they never got enough sleep. More than 90% of patients said their condition prevented them from being who they wanted to be (66% strongly agreed, 26% somewhat agreed), and that it is often unrecognized and underdiagnosed (67% strongly agree, 24% tend to agree). Similarly, responses indicated that most patients in the HI community believe they are underserved (67% strongly agree, 24% somewhat agree).
To date, there has been little research capturing the impacts on the quality of life of patients with IH. In April, results from the real-world ARISE study showed that sleep disturbance is associated with a moderate to severe effect on quality of life, demonstrated by responses to patient-reported outcomes. After completing a virtual survey, the cohort of 75 participants with HI demonstrated mean Neuro-QoL scores of 24.9 (±6.2) on social functioning and 19.9 (±6.3) on areas of stigma. General and clinical baseline scores on Neuro-QoL were 50.4 (±9.6) and 49.7 (±9.5), respectively.2
Part of the quality of life issues for patients with IH may stem from the lack of approved agents. After years of using only off-label wakefulness-promoting therapies, in August 2021, the FDA approved JZP-258 (Xywav; Jazz Pharmaceuticals) as the first therapeutic treatment to treat the disease. 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
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