Real-world assessment of the patient profile, clinical characteristics, treatment patterns, and outcomes associated with erythropoietic and X-linked protoporphyria
Samuel M. Silver, Katherine Houghton, Abby Hitchens, Valérie Derrien Ansquer, Malgorzata Ciepielewska
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引用次数: 0
Abstract
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare genetic disorders. There are limited data regarding how these disorders are managed in real-world settings. The aim of this study was to document the characteristics and treatment patterns among patients diagnosed with EPP or XLP in general real-world settings in the United States. We, therefore, conducted a retrospective medical record review of patients diagnosed with EPP or XLP on or before July 1, 2020. Data were analyzed for patients with EPP (n = 299) and XLP (n = 91). Outcomes included demographic and clinical characteristics, diagnostic testing, therapy recommendations, office visits, emergency department visits, and hospitalizations. Costs were assigned to healthcare resources. Mean (standard deviation [SD]; median) time between the first symptom documented in the medical records and diagnosis was 2.9 (5.1; 1.3) years. The most common pre-diagnostic tests were liver function, total plasma and erythrocyte protoporphyrin, genetic tests, and renal function. Patients were advised to use sunscreen (85%) or modify their lifestyle (83%). Within 12 months of diagnosis, the mean (SD; median) number of office visits, emergency department visits, and inpatient hospitalizations related to EPP or XLP were 4.0 (3.5; 3.0), 0.8 (1.6; 0), and 0.4 (1.3; 0), respectively. Patients with EPP or XLP have several unmet needs, including timely and accurate diagnosis, symptom relief, and efficacious prevention of phototoxic reactions.
期刊介绍:
The Journal of Dermatology is the official peer-reviewed publication of the Japanese Dermatological Association and the Asian Dermatological Association. The journal aims to provide a forum for the exchange of information about new and significant research in dermatology and to promote the discipline of dermatology in Japan and throughout the world. Research articles are supplemented by reviews, theoretical articles, special features, commentaries, book reviews and proceedings of workshops and conferences.
Preliminary or short reports and letters to the editor of two printed pages or less will be published as soon as possible. Papers in all fields of dermatology will be considered.