British Porphyria Association, Durham, UK.
Alnylam Pharmaceuticals, Alnylam UK Ltd, Braywick Gate, Maidenhead, SL6 1DA, UK.
Orphanet J Rare Dis. 2021 Apr 26;16(1):187. doi: 10.1186/s13023-021-01816-2.
This study used quantitative and qualitative research methods to analyze how acute hepatic porphyria (AHP) affects patients with varying annualized porphyria attack rates. The overall impact of AHP on patients and caregivers, including their quality of life, was explored. The nature and treatment of acute attacks, experiences of long-term heme arginate treatment and access to other appropriate treatment, and the extent of and treatment for chronic symptoms were also investigated within this study.
Patient and caregiver data were collected via an online survey of members of the British Porphyria Association, followed by an optional 1-h telephone interview.
Thirty-eight patients and 10 caregivers responded to the survey. Of those, 10 patients and three caregivers completed follow-up interviews. Overall, 19 patients (50%) had experienced an acute attack within the previous 2 years, and the severity and types of symptoms experienced during or between acute attacks varied considerably. There were no clear definitions among patients for 'mild' or 'severe' attacks. Treatments and treatment settings used to manage attacks also varied. Following unsatisfactory care experiences at hospitals, some patients reported avoiding further hospital services for later attacks. Therefore, using settings of care as a measure of attack severity should be avoided. Ninety-four percent of patients also experienced chronic symptoms, which were as varied as acute attacks. Pain was the predominant chronic symptom and was managed with opioids in severe cases. Regardless of AAR, porphyria heavily impacted the daily lives of patients and caregivers. Although patients experiencing frequent attacks generally endured a greater impact on their daily life, patients with less frequent attacks also experienced impacts on all domains (social, leisure activities, relationship with family, relationships, psychological wellbeing, finances, employment, and study). Caregivers were most affected in the finance, relationships with family, and employment domains, and just over half of the caregivers reported a moderate impact on their psychological wellbeing.
CONCLUSIONS/IMPLICATIONS: The burden of illness with AHP is high across all patients, regardless of frequency of attacks, and AHP negatively affects patients and caregivers alike.
本研究采用定量和定性研究方法，分析急性肝性卟啉症（AHP）如何影响年化卟啉症发作率不同的患者。探讨了 AHP 对患者和护理人员的整体影响，包括他们的生活质量。本研究还调查了急性发作的性质和治疗、长期使用血红素精氨酸治疗和获得其他适当治疗的经历、慢性症状的严重程度和治疗。
通过对英国卟啉症协会成员进行在线调查收集患者和护理人员的数据，随后进行可选的 1 小时电话访谈。
38 名患者和 10 名护理人员对调查做出了回应。其中，10 名患者和 3 名护理人员完成了随访访谈。总的来说，19 名患者（50%）在过去 2 年内经历过急性发作，发作期间或之间经历的症状严重程度和类型差异很大。患者之间对于“轻度”或“重度”发作没有明确的定义。用于管理发作的治疗和治疗方案也各不相同。由于在医院的护理体验不佳，一些患者在后来的发作时避免了进一步的医院服务。因此，不应该将护理场所作为发作严重程度的衡量标准。94%的患者还经历了慢性症状，与急性发作一样多种多样。疼痛是主要的慢性症状，在严重的情况下使用阿片类药物进行治疗。无论年化卟啉症发作率如何，卟啉症都会严重影响患者和护理人员的日常生活。尽管经常发作的患者通常对日常生活的影响更大，但发作较少的患者也会在所有领域（社交、休闲活动、与家人的关系、人际关系、心理健康、财务、就业和学习）受到影响。护理人员在财务、与家人的关系和就业领域受到的影响最大，超过一半的护理人员报告说他们的心理健康受到中度影响。
结论/意义：无论发作频率如何，AHP 给所有患者带来的疾病负担都很高，AHP 对患者和护理人员都有负面影响。
