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.

中文翻译：

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皮肤卟啉卟啉症的健康相关生活质量：基于横断面注册表的研究。

皮肤卟啉卟啉菌（PCT）是一种罕见的光敏性疾病，其特征是皮肤脆弱，在阳光照射的区域起泡。以前很少有关于这种状况如何影响健康相关生活质量（HRQoL）的研究，据我们所知，这是接受调查的有关HRQoL的PCT患者的最大样本。这项研究的目的是描述PCT患者的HRQoL，症状，易感性因素，疾病活动和治疗，并研究这些因素之间的关联。这是一项基于患者报告的结果和实验室数据的横断面回顾性研究。挪威卟啉症中心在挪威诊断出所有PCT患者，所有患者都应邀参加挪威卟啉症登记系统。在2013年12月至2015年之间，111名患者收到了邮政问卷和邀请参加。有68人回答了该问题，其中7人由于响应时间延长或信息丢失而被排除在外，导致61位参与者参加了最终分析（55％）。中位年龄为60岁，女性为33岁。我们发现PCT症状的类型和位置与HRQoL的精神（r = -.354 p <0.01）和身体（r = -.441，p <0.01）方面之间存在中等程度的负相关。回答问卷后已开始治疗的参与者报告说，与未开始治疗的参与者相比，他们的身体机能明显更好，身体疼痛更少。我们没有观察到疾病活动的生物化学标记与症状或HRQoL之间的关联。瘙痒，59％的参与者报告了一种在PCT中很少受到关注的症状。我们的结果表明，降低的HRQoL与更多症状有关，并且尚未开始治疗。PCT是一种罕见的疾病，因此需要制定最佳实践指南以促进良好的患者护理。