Fundación Para el Estudio de las Enfermedades Neurometabólicas, Buenos Aires, Argentina.
Universidad Cooperativa de Colombia, Santa Marta, Colombia.
J Pain Symptom Manage. 2018 Jul;56(1):146-152. doi: 10.1016/j.jpainsymman.2018.03.023. Epub 2018 Apr 10.
The mucopolysaccharidosis (MPS) constitutes a heterogeneous group of rare genetic disorders caused by enzymatic deficiencies that lead to the accumulation of glycosaminoglycans. Several types of MPS are described, historically numbered from I to IX. Clinical observations strongly suggest the presence of chronic pain in patients with all types of MPS. There are few data in the literature on the evaluation and management of pain in these patients, a fact that can compromise the quality of life even more. Professionals with extensive experience in the care for patients with MPS held a meeting in April 2017 to discuss and propose recommendations for the evaluation and management of pain in patients with MPS in Latin America. This article summarizes the content of the discussions and presents the recommendations produced at the meeting. Patients with MPS present joint, bone, and muscle pain, as well as entrapment syndromes (spinal, optic nerve, carpal tunnel). The panel suggests the use of the following instruments for pain assessment: Face, Legs, Activity, Cry and Consolability Scale for children of up to four years of age and patients unable to communicate their pain; Child Health Assessment Questionnaire Scale; Facial Pain Scale and Numerical Pain Scale for patients of five to <18 years of age; Brief Pain Inventory and Short Form Health Survey 36 scales for patients aged 18 years or older. Based on the scores verified in these scales, the panel proposes pharmacological interventions for pain relief in this population of patients.
黏多糖贮积症(MPS)是一组由酶缺乏引起的罕见遗传性疾病,导致糖胺聚糖积累。有几种类型的 MPS 被描述,历史上编号从 I 到 IX。临床观察强烈表明,所有类型的 MPS 患者都存在慢性疼痛。关于这些患者的疼痛评估和管理,文献中只有很少的数据,这一事实甚至可能使生活质量进一步恶化。在 MPS 患者护理方面拥有丰富经验的专业人员于 2017 年 4 月举行了一次会议,讨论并提出了拉丁美洲 MPS 患者疼痛评估和管理的建议。本文总结了讨论的内容,并介绍了会议提出的建议。MPS 患者存在关节、骨骼和肌肉疼痛,以及嵌压综合征(脊髓、视神经、腕管)。专家组建议使用以下工具评估疼痛:适用于 4 岁以下儿童和无法表达疼痛的患者的面部、腿部、活动、哭泣和安慰量表;儿童健康评估问卷量表;适用于 5 至<18 岁患者的面部疼痛量表和数字疼痛量表;18 岁及以上患者的简明疼痛量表和简短健康调查 36 量表。基于这些量表中验证的分数,专家组提出了缓解该人群患者疼痛的药物干预措施。