Self‐Reported Liver Disease and the Burden of Erythropoietic Protoporphyria

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria are metabolic disorders that cause skin phototoxicity and potential liver damage. We compared symptoms and impacts of phototoxic reactions, health-related quality of life, and healthcare utilization (HCU) between individuals with and without self-reported liver disease (elevated liver enzymes or liver fibrosis) using an online questionnaire containing validated patient-reported outcome measures and original items. Among 164 participants, 15.2% self-reported liver disease. Sixty-four percent of those with liver disease rated their general health "much worse" than those without EPP, versus 35% of those without liver disease. Those with liver disease had a higher frequency of prodromal symptoms and more frequently reported that their most recent phototoxic reaction impacted their ability to perform daily activities (76% versus 55% for those without liver disease) and resulted in difficulty in doing chores (88% versus 60%) or going for a walk, run, or bike ride (84% versus 60%). A higher percentage of those with liver disease reported feeling anxious (92% versus 78%), isolated (100% versus 80%), and lonely (96% versus 72%) than those without liver disease. The mean number of hours missed from work and school in the past month was higher for those with liver disease (work: 10.9 h; school: 7.7 h) than those without liver disease (3.6 h for both). EPP-related HCU in the previous 12 months was higher for those with liver disease than those without liver disease, including more physician visits (mean of 16.5 versus 6.0) and emergency room visits (mean of 9.0 versus 1.9).