Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx", Meibergdreef 9, Amsterdam, Netherlands.
Department of Pediatric Orthopedics, Altonaer Children's Hospital, Bleickenallee 38, 22763, Hamburg, Germany.
Orphanet J Rare Dis. 2019 Jan 18;14(1):17. doi: 10.1186/s13023-019-0997-5.
In all patients with mucopolysaccharidosis type I (MPS I), skeletal disease (dysostosis multiplex) is a prominent, debilitating, condition related complication that may impact strongly on activities of daily living. Unfortunately, it is not alleviated by treatment with hematopoietic cell transplantation (HCT) or enzyme replacement therapy (ERT). Although early kyphosis is one of the key features of dysostosis multiplex, there is no international consensus on the optimal management. Therefore, an international consensus procedure was organized with the aim to develop the first clinical practice guideline for the management of thoracolumbar kyphosis in MPS I patients.
A literature review was conducted to identify all available information about kyphosis and related surgery in MPS I patients. Subsequently, a modified Delphi procedure was used to develop consensus statements. The expert panel included 10 spinal orthopedic surgeons, 6 pediatricians and 3 physiotherapists, all experienced in MPS I. The procedure consisted of 2 written rounds, a face-to-face meeting and a final written round. The first 2 rounds contained case histories, general questions and draft statements. During the face-to-face meeting consensus statements were developed. In the final round, the panel had the opportunity to anonymously express their opinion about the proposed statements.
Eighteen case series and case reports were retrieved from literature reporting on different surgical approaches and timing of thoracolumbar kyphosis surgery in MPS I. During the face-to-face meeting 16 statements were discussed and revised. Consensus was reached on all statements.
This international consensus procedure resulted in the first clinical practice guideline for the management of thoracolumbar kyphosis in MPS I patients, focusing on the goals and timing of surgery, as well as the optimal surgical approach, the utility of bracing and required additional assessments (e.g. radiographs). Most importantly, it was concluded that the decision for surgery depends not only on the kyphotic angle, but also on additional factors such as the progression of the deformity and its flexibility, the presence of symptoms, growth potential and comorbidities. The eventual goal of treatment is the maintenance or improvement of quality of life. Further international collaborative research related to long-term outcome of kyphosis surgery in MPS I is essential as prognostic information is lacking.
在所有黏多糖贮积症 I 型（MPS I）患者中，骨骼疾病（多发性骨发育不良）是一种突出的、使人虚弱的、与疾病相关的并发症，可能会强烈影响日常生活活动。不幸的是，造血细胞移植（HCT）或酶替代疗法（ERT）并不能缓解这种疾病。尽管早期后凸畸形是多发性骨发育不良的关键特征之一，但目前尚无关于最佳治疗方法的国际共识。因此，我们组织了一次国际共识程序，旨在为 MPS I 患者的胸腰椎后凸症制定第一个临床实践指南。
对所有关于 MPS I 患者后凸症及相关手术的可用信息进行文献回顾。随后，采用改良 Delphi 程序制定共识声明。专家小组由 10 名脊柱矫形外科医生、6 名儿科医生和 3 名物理治疗师组成，他们均具有 MPS I 方面的丰富经验。该程序包括 2 轮书面讨论、一次面对面会议和一轮最终书面讨论。前两轮包含病史、一般问题和草案声明。在面对面会议上，专家小组制定了共识声明。在最后一轮，小组成员有机会匿名表达对所提议声明的意见。
从文献中检索到 18 项关于不同手术方法和胸腰椎后凸症手术时机的病例系列和病例报告。在面对面会议上，讨论并修订了 16 项声明。所有声明均达成共识。
本次国际共识程序制定了 MPS I 患者胸腰椎后凸症管理的首个临床实践指南，重点关注手术的目标和时机，以及最佳手术方法、支具的使用以及所需的额外评估（如影像学检查）。最重要的是，我们得出结论，手术决策不仅取决于后凸角度，还取决于其他因素，如畸形的进展及其灵活性、症状的存在、生长潜力和合并症。治疗的最终目标是维持或提高生活质量。由于缺乏预后信息，因此进一步开展与 MPS I 后凸症手术长期结果相关的国际合作研究至关重要。
