Yonko Elizabeth A, LoTurco Holly M, Carter Erin M, Raggio Cathleen L
Epidemiology Department, Columbia University Mailman School of Public Health, New York, New York, USA.
Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery, New York, New York, USA.
Am J Med Genet C Semin Med Genet. 2021 Dec;187(4):458-465. doi: 10.1002/ajmg.c.31958. Epub 2021 Nov 29.
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of connective tissue disorders with varying physical manifestations. There are no clear guidelines for addressing orthopedic concerns or reporting surgical outcomes in this population. This article reviews the literature, reports on a new study, and offers considerations prior to surgical intervention. The new study seeks to determine the effectiveness of surgical intervention in individuals with EDS. It is a retrospective chart review of 154 individuals clinically diagnosed with EDS who had orthopedic surgery >2 years ago at Hospital for Special Surgery. A total of 120 individuals were included in the study. One hundred eleven females and 9 males underwent a total of 320 orthopedic surgeries, of which 204 surgeries had available post-operative follow-up. The average age at surgery was 38.2 years (range: 7.6-83.3). Multiple post-operative complications (290) were reported in 91% of cases. Common complications were persistent pain/discomfort (45), continued subluxation/dislocation (20), instability (19), pain/discomfort from hardware (17), and infection (16). Our results suggest that surgical outcomes are worse for individuals with EDS compared to the general population, a finding which is similar to other studies. Complications occurred more frequently in the EDS population than the average population, suggesting that surgery should be undertaken by a multidisciplinary team of clinicians with careful pre-operative planning and full knowledge of the risks and benefits. Guidelines for the care of this unique population must be established.
埃勒斯-当洛综合征（EDS）是一组临床和遗传上异质性的结缔组织疾病，有多种身体表现。对于处理该人群的骨科问题或报告手术结果，目前尚无明确的指导方针。本文回顾了相关文献，报告了一项新研究，并在手术干预前提供了一些考虑因素。这项新研究旨在确定手术干预对EDS患者的有效性。它是一项对154例临床诊断为EDS且在特种外科医院接受骨科手术超过2年的患者进行的回顾性病历审查。共有120例患者纳入研究。111名女性和9名男性共接受了320例骨科手术，其中204例手术有术后随访资料。手术时的平均年龄为38.2岁（范围：7.6 - 83.3岁）。91%的病例报告了多种术后并发症（290例）。常见并发症包括持续疼痛/不适（45例）、持续半脱位/脱位（20例）、不稳定（19例）、植入物引起的疼痛/不适（17例）和感染（16例）。我们的结果表明，与普通人群相比，EDS患者的手术结果更差，这一发现与其他研究相似。并发症在EDS人群中比普通人群更频繁地发生，这表明手术应由多学科临床医生团队进行，术前要仔细规划并充分了解风险和益处。必须为这一特殊人群制定护理指南。
