Miano Silvia, Kheirandish-Gozal Leila, De Pieri Marco
Sleep Medicine Unit, Neurocenter of Southern Switzerland, Civic Hospital, EOC, Faculty of Biomedical Sciences, Università della Svizzera Italiana, 6900, Lugano, Switzerland.
Department of Neurology, Pediatric Sleep Medicine, University of Missouri, United States.
Sleep Med X. 2024 Sep 18;8:100126. doi: 10.1016/j.sleepx.2024.100126. eCollection 2024 Dec 15.
Narcolepsy and obstructive sleep apnea syndrome (OSA) are relevant causes of excessive daytime sleepiness (EDS); although different for etiopathogenesis and symptoms, differential diagnosis is sometimes difficult, and guidelines are lacking concerning their management when coexisting in a same patient.
A narrative review of the literature was realized including PubMed, Scopus and Embase, aimed to regroup studies and case reports evaluating epidemiology, clinical and instrumental features and treatment of patients presenting comorbid NT1 and OSA. Moreover, a snowball search on the pathophysiology underpinnings of the association of the two disorder was realized.
For adults, the prevalence of OSA in NT1 ranged from 24.8 % to 51.4 %. No studies were found concerning the treatment of EDS in double-diagnosis patients, but only case reports; these latter and the experience on patients with either NT or OSA suggest that modafinil, methylphenidate, pitolisant and solriamfetol are effective.
Adults with NT1 showed a higher prevalence of OSA compared to the general population, but the reach of the results reviewed here is limited by the retrospective design of most of the studies and by the inhomogeneous utilization of diagnostic criteria. The association with OSA is likely to be explained by the involvement of orexin in hypercapnic-hypoxic responses: a deficit of orexin may promote obstructive events during sleep. Open questions warrant further investigation, especially orexin's involvement in other sleep disorders associated with EDS, and the more appropriate treatment for the OSA-narcolepsy comorbidity.
发作性睡病和阻塞性睡眠呼吸暂停综合征（OSA）是白天过度嗜睡（EDS）的相关病因；尽管在病因和症状方面有所不同，但鉴别诊断有时很困难，且对于同一患者同时存在这两种疾病时的管理缺乏相关指南。
对文献进行叙述性综述，包括PubMed、Scopus和Embase，旨在汇总评估共病发作性睡病1型（NT1）和OSA患者的流行病学、临床及仪器检查特征以及治疗的研究和病例报告。此外，对这两种疾病关联的病理生理学基础进行了滚雪球式搜索。
对于成年人，NT1患者中OSA的患病率在24.8%至51.4%之间。未发现关于双诊断患者EDS治疗的研究，仅有病例报告；这些病例报告以及对NT或OSA患者的经验表明，莫达非尼、哌甲酯、匹托利生和索利氨苯酯是有效的。
与普通人群相比，NT1成年患者中OSA的患病率更高，但此处综述结果的范围受到大多数研究的回顾性设计以及诊断标准使用不均一性的限制。与OSA的关联可能是由于食欲素参与高碳酸血症 - 低氧反应：食欲素缺乏可能会促进睡眠期间的阻塞性事件。悬而未决的问题值得进一步研究，特别是食欲素在与EDS相关的其他睡眠障碍中的作用，以及OSA - 发作性睡病共病的更合适治疗方法。
