Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA.
Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital for Children and Harvard Medical School, Boston, MA.
Genet Med. 2022 Aug;24(8):1722-1731. doi: 10.1016/j.gim.2022.04.018. Epub 2022 May 11.
Patients with inherited metabolic disorders (IMDs) now have improved health outcomes and increased survival into adulthood. There is scant evidence on managing adults with IMDs. We present an analysis of current care practices for adults with IMDs in the United States.
We created and distributed an online survey to US members of the Society of Inherited Metabolic Disorders. The survey addressed ambulatory care, acute management, and health care transition (HCT) practices of adults with IMDs.
The survey was completed by 91 providers from 73 institutions. Most adult patients with IMDs receive lifelong care from a single metabolic clinician, predominantly in pediatric clinic settings. Adults receive comprehensive ambulatory metabolic care, but fewer trainees participate compared with pediatric visits. Most acute IMD management occurs in pediatric hospitals. Clinician comfort with HCT increased the frequency of HCT planning. Overall, all respondents felt that providing specialized care to adults with IMDs is high value.
Our survey demonstrates the paucity of clinical resources dedicated to adult metabolic medicine. Care is fragmented and varies by medical system. Interest in HCT is robust but would benefit from standardized practices. Our findings reinforce the need for greater focus on adult metabolic medicine in the United States.
遗传性代谢疾病（IMD）患者现在的健康状况得到改善，成年后存活率提高。目前针对 IMD 成年患者的管理措施的证据有限。我们分析了美国 IMD 成年患者的现行护理实践。
我们创建并向美国遗传性代谢疾病学会的成员分发了一份在线调查。该调查针对 IMD 成年患者的门诊护理、急性管理和医疗过渡（HCT）实践。
该调查由 73 个机构的 91 名提供者完成。大多数 IMD 成年患者由单一代谢临床医生提供终身护理，主要在儿科诊所环境中。成人接受全面的门诊代谢护理，但与儿科就诊相比，参与的培训生较少。大多数急性 IMD 管理发生在儿科医院。临床医生对 HCT 的舒适度增加了 HCT 计划的频率。总体而言，所有受访者都认为为 IMD 成年患者提供专业护理具有很高的价值。
我们的调查表明，专门用于成人代谢医学的临床资源稀缺。护理分散且因医疗系统而异。对 HCT 的兴趣浓厚，但受益于标准化实践。我们的发现强调了美国需要更加关注成人代谢医学。
