Health-related quality of life in porphyria cutanea tarda: a cross-sectional registry based study

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.