Hematology, Hospital Quironsalud, Zaragoza, Spain; Fundación Española para el Estudio y Tratamiento de la Enfermedad de Gaucher (FEETEG), Zaragoza, Spain.
Rare and Inherited Metabolic Diseases Unit, Hospital Vall d'Hebron, Barcelona, Spain.
Med Clin (Barc). 2024 Nov 15;163(9):449-457. doi: 10.1016/j.medcli.2024.06.006. Epub 2024 Aug 1.
Patient-reported outcome measures (PROMs) and patient-reported experiences measures (PREMs) are crucial for understanding the impact of GD on quality of life and patient's perceptions on care, but also to guide decision-making processes. Nevertheless, no specific PREMs in GD have been published, neither PROMs for Spanish GD patients have been developed.
Two project coordinators selected key-points to be included in a PROMs/PREMs questionnaire, and the scientific committee and a group of expert patients contributed to the initial draft. Then, 9 meetings with experts were held to discuss controversial points. After, a questionnaire with 103 items regarding symptomatology, aspects of daily life and care experience was developed. Finally, it was conducted a Delphi survey among a multidisciplinary group of experts in GD.
Consensus was reached on 85 out of the 103 items. Recommendations on PROMs and PREMs regarding symptomatology, aspects of daily life and care experience were obtained. Consensus was reached on the importance of considering fatigue, concentration problems, and communication issues in GD patients using 5-step analog scales. Panelists recommended asking GD patients about the impact on social functioning and work/school performance. Finally, consensus was reached on considering care experiences, such as treatment satisfaction, treatment interruptions or transitions and healthcare professionals involved in patient's management to perceive patient's perceptions.
This expert consensus may help developing GD-specific PROMs/PREMs for improving GD management. Properly developed and validated PROMs/PREMs may help decision-making, establishing patient-tailored therapeutic and follow-up goals.
患者报告的结局测量（PROMs）和患者报告的体验测量（PREMs）对于了解 GD 对生活质量的影响以及患者对护理的看法至关重要，同时也有助于指导决策过程。然而，目前尚未发表专门针对 GD 的 PREMs，也没有为西班牙 GD 患者开发 PROMs。
两位项目协调员选择了 PROMs/PREMs 问卷中应包含的要点，科学委员会和一组专家患者为初始草案做出了贡献。然后，与专家举行了 9 次会议，讨论了有争议的问题。之后，开发了一份包含 103 个关于症状、日常生活方面和护理体验的问题的问卷。最后，在 GD 的多学科专家组中进行了德尔菲调查。
在 103 个项目中有 85 个达成了共识。就症状、日常生活方面和护理体验的 PROMs 和 PREMs 提出了建议。达成共识，认为使用 5 级模拟量表考虑 GD 患者的疲劳、注意力问题和沟通问题非常重要。专家小组成员建议询问 GD 患者社交功能和工作/学业表现受影响的情况。最后，达成共识，认为需要考虑护理体验，如治疗满意度、治疗中断或转换以及参与患者管理的医疗保健专业人员，以了解患者的看法。
本专家共识可能有助于开发特定于 GD 的 PROMs/PREMs，以改善 GD 的管理。开发和验证适当的 PROMs/PREMs 有助于决策制定，为患者制定个性化的治疗和随访目标。
