Research Committee on Clinical Management of Prader-Willi syndrome, Research on Measures for Intractable Diseases, Health and Labour Sciences Research Grants, Tokyo, Japan.
Department of Gastroenterology, Nutrition, and Endocrinology, Osaka Women's and Children's Hospital, Izumi 594-1101, Japan.
Endocr J. 2023 May 29;70(5):519-528. doi: 10.1507/endocrj.EJ22-0561. Epub 2023 Mar 14.
Prader-Willi syndrome (PWS) is a multisystem disorder with increased mortality predominantly due to obesity-associated complications; therefore, the management of obesity has been centric to therapeutic strategies for PWS. Although a multidisciplinary team approach has been successful for this purpose during childhood, it is generally difficult to implement during adulthood because of the lack of a structured transitional care program. A more detailed understanding of the current medical conditions of adults with PWS is needed to establish this program; however, limited information is currently available on this issue in Japan. Accordingly, we performed a questionnaire-based survey on 425 patients with PWS. There were 162 adult patients aged 18 years or older with median body mass indexes (kg/m) of 29.4 and 30.4 in males and females, respectively. The frequencies of type 2 diabetes mellitus (T2DM) and hypertension in adults with PWS were 40.4 and 19.4%, respectively. Growth hormone (GH) therapy during childhood correlated with lower rates of T2DM and hypertension during adulthood. Among adult patients, 54% were treated by pediatricians, whereas 44% were seen by internists with an endocrinologist/diabetologist being the most prevalent. Adult patients treated with GH during childhood showed a higher rate of being seen by pediatricians than those without, demonstrating that the multidisciplinary team approach, typically applied with GH therapy, may be continuously provided even after they reach adulthood. These results emphasize the importance of the seamless provision of the multidisciplinary team approach, which is of clinical importance for establishing an optimal transitional care program for PWS.
普拉德-威利综合征（PWS）是一种多系统疾病，死亡率增加主要与肥胖相关并发症有关；因此，肥胖的管理一直是 PWS 治疗策略的核心。尽管在儿童时期采用多学科团队方法已取得成功，但由于缺乏结构化的过渡性护理计划，在成年期通常难以实施。为了建立这个计划，需要更详细地了解成年 PWS 患者的当前医疗状况；然而，目前在日本，关于这个问题的信息有限。因此，我们对 425 名 PWS 患者进行了基于问卷调查的研究。有 162 名年龄在 18 岁或以上的成年患者，男性和女性的中位数体重指数（kg/m）分别为 29.4 和 30.4。成年 PWS 患者中 2 型糖尿病（T2DM）和高血压的发生率分别为 40.4%和 19.4%。儿童期生长激素（GH）治疗与成年期 T2DM 和高血压的发生率较低相关。在成年患者中，54%由儿科医生治疗，44%由内科医生治疗，其中内分泌学家/糖尿病学家最为常见。在儿童期接受 GH 治疗的成年患者由儿科医生治疗的比例高于未接受 GH 治疗的患者，这表明通常与 GH 治疗一起应用的多学科团队方法可能会在他们成年后继续提供。这些结果强调了无缝提供多学科团队方法的重要性，这对于建立 PWS 的最佳过渡性护理计划具有临床意义。
