Thorpy Michael J, Hiller George
Director, Sleep-Wake Disorders Center, Montefiore Medical Center, Bronx, NY.
Founder and Registered Pharmacist, The Hiller Pharmacy Management Group, Birmingham, AL.
Am Health Drug Benefits. 2017 Jul;10(5):233-241.
The neurologic disorder narcolepsy results from dysregulation of the sleep-wake cycle and is primarily characterized by chronic, severely excessive daytime sleepiness and cataplexy, an emotionally induced muscle weakness. The prevalence of narcolepsy is approximately 0.05%, and onset generally occurs during the first 2 decades of life. Narcolepsy is believed to be an autoimmune disorder with destruction of hypocretin-producing neurons in the lateral hypothalamus.
To provide an enhanced understanding of narcolepsy and establish the need for early diagnosis and rapid initiation of effective treatment for patients with narcolepsy.
Narcolepsy reduces daily functioning and is associated with a substantial medical and economic burden, with many patients being on full disability. The annual direct medical costs are approximately 2-fold higher in patients with narcolepsy than in matched controls without this condition ($11,702 vs $5261, respectively; <.0001). Further contributing to the overall burden is a lack of recognition of the signs and symptoms of narcolepsy and an absence of easily measurable biomarkers, resulting in a diagnostic delay that often exceeds 10 years and may be associated with misdiagnosis and inappropriate resource utilization. Because narcolepsy generally has an onset in childhood or in adolescence, is often misdiagnosed, has no known cure, and requires lifelong treatment, it is an important disease from a managed care perspective. Clinical features, as well as objective testing, should be used to ensure the timely diagnosis and treatment of patients with narcolepsy.
Policies for the diagnosis and treatment of narcolepsy should be based on the current treatment guidelines, but they should also encourage shared decisions between clinicians and patients to allow for individualized diagnostic and treatment choices, as suggested in best practice recommendations.
神经系统疾病发作性睡病是由睡眠 - 觉醒周期失调引起的,主要特征为慢性、严重的日间过度嗜睡和猝倒,即情绪诱发的肌肉无力。发作性睡病的患病率约为0.05%,发病通常发生在生命的前20年。发作性睡病被认为是一种自身免疫性疾病,伴有下丘脑外侧分泌下丘脑泌素的神经元被破坏。
加深对发作性睡病的理解,并确定对发作性睡病患者进行早期诊断和迅速开始有效治疗的必要性。
发作性睡病会降低日常功能,并带来巨大的医疗和经济负担,许多患者完全丧失劳动能力。发作性睡病患者的年度直接医疗费用比无此病的匹配对照组高出约2倍(分别为11,702美元和5261美元;P <.0001)。对发作性睡病体征和症状缺乏认识以及缺乏易于测量的生物标志物,进一步加重了总体负担,导致诊断延迟往往超过10年,可能与误诊和资源利用不当有关。由于发作性睡病通常在儿童期或青春期发病,常被误诊,尚无已知治愈方法且需要终身治疗,从管理式医疗的角度来看,它是一种重要疾病。应利用临床特征以及客观检测来确保发作性睡病患者得到及时诊断和治疗。
发作性睡病的诊断和治疗政策应基于当前的治疗指南,但也应鼓励临床医生与患者共同决策,以便做出个性化的诊断和治疗选择,如最佳实践建议中所提倡的那样。