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. 2025 Mar;52(3):416-422.
doi: 10.1111/1346-8138.17607. Epub 2025 Jan 6.

Real-world assessment of the patient profile, clinical characteristics, treatment patterns, and outcomes associated with erythropoietic and X-linked protoporphyria

Samuel M Silver #  1 , Katherine Houghton  2 , Abby Hitchens  3 , Valérie Derrien Ansquer  4 , Malgorzata Ciepielewska  5
Affiliations

Real-world assessment of the patient profile, clinical characteristics, treatment patterns, and outcomes associated with erythropoietic and X-linked protoporphyria

Samuel M Silver et al. J Dermatol. 2025 Mar.

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.

Keywords: X‐linked protoporphyria; erythropoietic protoporphyria; medical records; real world; retrospective.

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Conflict of interest statement

Samuel M. Silver was a paid consultant for Mitsubishi Tanabe Pharma America, Inc. Katherine Houghton, Abby Hitchens, and Valérie Derrien Ansquer are employees of RTI Health Solutions, which received funding to conduct this study. Malgorzata Ciepielewska is an employee of Mitsubishi Tanabe Pharma America, Inc.

Figures

FIGURE 1
FIGURE 1
Erythropoietic protoporphyria (EPP) and X‐linked protoporphyria (XLP) symptoms before diagnosis (n = 374).
FIGURE 2
FIGURE 2
Common pre‐diagnostic tests related to symptoms of erythropoietic protoporphyria (EPP) and X‐linked protoporphyria (XLP) (n = 386). ALAS2, aminolevulinic acid synthase‐2; FECH, ferrochelatase.
FIGURE 3
FIGURE 3
Recommendations and therapy upon and following diagnosis of (n = 386) erythropoietic protoporphyria (EPP) and X‐linked protoporphyria (XLP). NSAID, non‐steroidal anti‐inflammatory drug.
See this image and copyright information in PMC

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