PDF(Pubmed)
Abstract：
BACKGROUND: Hypophosphatasia (HPP) is an inborn error of metabolism with a variable presentation. We conducted a modified Delphi panel to obtain expert consensus on knowledge gaps regarding disease severity and progression in adult patients with HPP.
METHODS: Healthcare professionals (HCPs) with experience managing adult patients with HPP were recruited to participate in a 3-round Delphi panel (round 1: paper survey and 1:1 interview; rounds 2-3: email survey). Panelists rated the extent of their agreement with statements about disease severity and progression in adult patients with HPP. Consensus was defined as ≥ 80% agreement.
RESULTS: Ten HCPs completed round 1; nine completed rounds 2 and 3. Consensus was reached on 46/120 statements derived from steering committee input. Disease severity markers in adult patients with HPP can be bone-related (recurrent/poorly healing fractures, pseudo-fractures, metatarsal fractures, osteomalacia) or involve dentition or physiologic/functional manifestations (use of mobility devices/home modifications, abnormal gait, pain). Disease progression markers can include recurrent/poorly healing low-trauma fractures, development of ectopic calcifications, and/or impairment of functional activity. Panelists supported the development of a tool to help assess disease severity in the clinic and track changes in severity over time. Panelists also highlighted the role of a multidisciplinary team, centers with expertise, and the need to refer patients when disease severity is not clear.
CONCLUSIONS: These statements regarding disease severity, progression, and assessment methods address some knowledge gaps in adult patients with HPP and may be helpful for treating HCPs, although the small sample size affects the ability to generalize the healthcare provider experience.
METHODS: Healthcare professionals (HCPs) with experience managing adult patients with HPP were recruited to participate in a 3-round Delphi panel (round 1: paper survey and 1:1 interview; rounds 2-3: email survey). Panelists rated the extent of their agreement with statements about disease severity and progression in adult patients with HPP. Consensus was defined as ≥ 80% agreement.
RESULTS: Ten HCPs completed round 1; nine completed rounds 2 and 3. Consensus was reached on 46/120 statements derived from steering committee input. Disease severity markers in adult patients with HPP can be bone-related (recurrent/poorly healing fractures, pseudo-fractures, metatarsal fractures, osteomalacia) or involve dentition or physiologic/functional manifestations (use of mobility devices/home modifications, abnormal gait, pain). Disease progression markers can include recurrent/poorly healing low-trauma fractures, development of ectopic calcifications, and/or impairment of functional activity. Panelists supported the development of a tool to help assess disease severity in the clinic and track changes in severity over time. Panelists also highlighted the role of a multidisciplinary team, centers with expertise, and the need to refer patients when disease severity is not clear.
CONCLUSIONS: These statements regarding disease severity, progression, and assessment methods address some knowledge gaps in adult patients with HPP and may be helpful for treating HCPs, although the small sample size affects the ability to generalize the healthcare provider experience.
摘要：
背景：低磷酸盐症（HPP）是一种先天性代谢错误，具有可变的表现。我们进行了一个改良的Delphi小组，以获得关于成人HPP患者疾病严重程度和进展的知识差距的专家共识。
方法：招募具有管理成人HPP患者经验的医疗保健专业人员（HCP）参加3轮Delphi小组（第1轮：纸质调查和1：1访谈；第2-3轮：电子邮件调查）。小组成员对他们与关于患有HPP的成年患者的疾病严重程度和进展的陈述的一致性程度进行了评级。共识被定义为≥80%的协议。
结果：10个HCP完成了第1轮；9个完成了第2轮和第3轮。就指导委员会投入的46/120声明达成了共识。患有HPP的成年患者的疾病严重程度标记物可以与骨相关（复发性/愈合不良的骨折，假性骨折,跖骨骨折,骨软化症）或涉及牙列或生理/功能表现（使用移动设备/家庭改造，步态异常,疼痛)。疾病进展标志物可以包括复发性/愈合不良的低创伤骨折，异位钙化的发展，和/或功能活动受损。小组成员支持开发一种工具，以帮助评估临床中的疾病严重程度并跟踪严重程度随时间的变化。小组成员还强调了多学科小组的作用，拥有专业知识的中心，当疾病严重程度不明确时，需要转诊患者。
结论：这些关于疾病严重程度的陈述，programming,和评估方法解决了成人HPP患者的一些知识空白，可能有助于治疗HCPs，尽管样本量小会影响医疗保健提供者经验的泛化能力。
方法：招募具有管理成人HPP患者经验的医疗保健专业人员（HCP）参加3轮Delphi小组（第1轮：纸质调查和1：1访谈；第2-3轮：电子邮件调查）。小组成员对他们与关于患有HPP的成年患者的疾病严重程度和进展的陈述的一致性程度进行了评级。共识被定义为≥80%的协议。
结果：10个HCP完成了第1轮；9个完成了第2轮和第3轮。就指导委员会投入的46/120声明达成了共识。患有HPP的成年患者的疾病严重程度标记物可以与骨相关（复发性/愈合不良的骨折，假性骨折,跖骨骨折,骨软化症）或涉及牙列或生理/功能表现（使用移动设备/家庭改造，步态异常,疼痛)。疾病进展标志物可以包括复发性/愈合不良的低创伤骨折，异位钙化的发展，和/或功能活动受损。小组成员支持开发一种工具，以帮助评估临床中的疾病严重程度并跟踪严重程度随时间的变化。小组成员还强调了多学科小组的作用，拥有专业知识的中心，当疾病严重程度不明确时，需要转诊患者。
结论：这些关于疾病严重程度的陈述，programming,和评估方法解决了成人HPP患者的一些知识空白，可能有助于治疗HCPs，尽管样本量小会影响医疗保健提供者经验的泛化能力。
