Department of Medical Biochemistry and Pharmacology, Norwegian Porphyria Centre (NAPOS), Haukeland University Hospital, N-5021, Bergen, Norway.
Norwegian Organization for Quality Improvement of Laboratory Examinations, Haraldsplass Deaconess Hospital, N-5009, Bergen, Norway.
Health Qual Life Outcomes. 2020 Mar 30;18(1):84. doi: 10.1186/s12955-020-01328-w.
Porphyria cutanea tarda (PCT) is a rare, photosensitive disease characterized by skin fragility and blistering on sun-exposed areas. There is little previous research on how this condition affects health-related quality of life (HRQoL) and to the best of our knowledge this is the largest sample of PCT patients surveyed about their HRQoL. The aims of this study were to describe HRQoL, symptoms, susceptibility factors, disease activity and treatment in patients with PCT, and investigate the associations between these factors.
This is a cross-sectional, retrospective study based on patient-reported outcome and laboratory data. The Norwegian Porphyria Centre diagnoses all patients with PCT in Norway, all of whom are invited to participate in the Norwegian Porphyria Registry. Between December 2013-2015, 111 patients received a postal questionnaire and invitation to participate.
Sixty-eight persons responded, with seven being excluded due to prolonged response time or missing information, resulting in 61 participants in the final analyses (55%). Median age was 60 years and 33 were female. We found a moderate negative relationship between the type and localisation of PCT symptoms and both mental (r = -.354 p < 0.01) and physical (r = -.441, p < 0.01) aspects of HRQoL. Participants who had started treatment when answering the questionnaire reported significantly better physical functioning and less bodily pain than those who had not started treatment. We did not observe an association between biochemical markers of disease activity and symptoms or HRQoL. Itching, a symptom that has received little attention in PCT was reported by 59% of the participants.
Our results show that reduced HRQoL is associated with more symptoms and not having started treatment. PCT is a rare disease, and there is a need for the development of best-practice guidelines to facilitate good patient care.
迟发性皮肤卟啉病（PCT）是一种罕见的光敏性疾病，其特征为暴露于阳光下的皮肤脆弱和起水疱。此前关于这种疾病如何影响健康相关生活质量（HRQoL）的研究很少，据我们所知，这是对最大样本量的 PCT 患者进行 HRQoL 调查的研究之一。本研究的目的是描述 PCT 患者的 HRQoL、症状、易感性因素、疾病活动度和治疗情况，并探讨这些因素之间的关联。
这是一项基于患者报告结果和实验室数据的横断面、回顾性研究。挪威卟啉症中心诊断所有挪威 PCT 患者，所有患者均受邀参加挪威卟啉症登记处。2013 年 12 月至 2015 年期间，有 111 名患者收到了邮寄问卷和参与邀请。
有 68 人做出了回应，其中 7 人由于反应时间过长或信息缺失而被排除在外，最终有 61 名参与者（55%）进入最终分析。中位年龄为 60 岁，其中 33 人为女性。我们发现，PCT 症状的类型和定位与心理健康（r=-.354，p<.01）和身体健康（r=-.441，p<.01）方面的 HRQoL 呈中度负相关。在回答问卷时已经开始治疗的参与者报告的身体机能和身体疼痛明显优于尚未开始治疗的参与者。我们没有观察到疾病活动的生化标志物与症状或 HRQoL 之间的关联。瘙痒是 PCT 中受到较少关注的一种症状，有 59%的参与者报告了该症状。
我们的结果表明，HRQoL 降低与更多症状和未开始治疗有关。PCT 是一种罕见疾病，需要制定最佳实践指南，以促进良好的患者护理。
