University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, CB2 0SP, UK.
University of Cambridge Medical Library, Box 111, Cambridge Biomedical Campus, Cambridge, CB2 0SP, UK.
Eur J Med Genet. 2022 Jan;65(1):104379. doi: 10.1016/j.ejmg.2021.104379. Epub 2021 Nov 5.
Prader-Willi Syndrome (PWS) is a multi-system genetically determined neurodevelopmental disorder and the commonest cause of syndromal obesity. The development of hyperphagia in early childhood is part of the phenotype arising as a result of an impaired neural response to food intake and the inability to regulate food intake in line with energy needs. Severe obesity develops if access to food is not controlled. In this review we evaluate the evidence for increased morbidity and mortality in PWS in order to establish the extent to which it is directly related to the obesity; a consequence of the eating behaviour itself independent of obesity; or associated with other characteristics of the syndrome. Medline, Cochrane, PsychINFO, CINAHL, Web of Science and Scopus databases were used to systematically identify published material on PWS and hyperphagia and syndrome-related morbidity and mortality. One hundred and ten key papers were selected. Data on 500 people with PWS indicated that the average age of death was 21 years and obesity was, as expected, a significant factor. However, the behaviour of hyperphagia itself, independent of obesity, was also important, associated with choking, gastric rupture, and/or respiratory illness. Other syndrome-related factors increased the risk for, and seriousness of, co-morbid illness or accidents. We conclude that improving life-expectancy largely depends on managing the immediate non-obesity and obesity-related consequences of the hyperphagia, through improved support. The development of new treatments that significantly reduce the drive to eat are likely to decrease morbidity and mortality improving quality of life and life expectancy.
普拉德-威利综合征（PWS）是一种多系统遗传性神经发育障碍，也是综合征性肥胖的最常见原因。儿童早期出现的暴食症是由于对食物摄入的神经反应受损以及无法根据能量需求调节食物摄入而导致的表型的一部分。如果无法控制食物的摄入，就会发展为严重肥胖。在本综述中，我们评估了 PWS 患者发病率和死亡率增加的证据，以确定其与肥胖的直接关系程度；是进食行为本身对肥胖的影响；还是与综合征的其他特征有关。我们使用 Medline、Cochrane、PsychINFO、CINAHL、Web of Science 和 Scopus 数据库系统地查找了关于 PWS 和暴食症以及与综合征相关的发病率和死亡率的已发表资料。选择了 110 篇关键论文。关于 500 名 PWS 患者的数据表明，平均死亡年龄为 21 岁，肥胖是一个重要的因素。然而，独立于肥胖的暴食症本身的行为也很重要，与窒息、胃破裂和/或呼吸道疾病有关。其他与综合征相关的因素增加了共病或意外的风险和严重程度。我们得出的结论是，提高预期寿命在很大程度上取决于通过改善支持来管理暴食症的即时非肥胖和肥胖相关后果。开发能够显著降低进食驱动力的新治疗方法可能会降低发病率和死亡率，从而提高生活质量和预期寿命。
