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

IF 2.9 3区 医学 Q2 DERMATOLOGY
Samuel M. Silver, Katherine Houghton, Abby Hitchens, Valérie Derrien Ansquer, Malgorzata Ciepielewska
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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.

Abstract Image

红细胞生成和x连锁原卟啉症的患者概况、临床特征、治疗模式和结果的真实评估。
红细胞生成性原生卟啉症(EPP)和x连锁原生卟啉症(XLP)是罕见的遗传性疾病。关于在现实环境中如何管理这些疾病的数据有限。本研究的目的是记录在美国一般现实环境中诊断为EPP或XLP的患者的特征和治疗模式。因此,我们对2020年7月1日或之前诊断为EPP或XLP的患者进行了回顾性医疗记录审查。对EPP (n = 299)和XLP (n = 91)患者的数据进行分析。结果包括人口统计学和临床特征、诊断测试、治疗建议、办公室就诊、急诊就诊和住院情况。费用分配给保健资源。平均值(标准差[SD];从医疗记录中记录的首次症状到诊断的中位时间为2.9 (5.1;1.3)年。最常见的诊断前检测是肝功能、总血浆和红细胞原卟啉、基因检测和肾功能。建议患者使用防晒霜(85%)或改变他们的生活方式(83%)。在诊断的12个月内,平均(SD;与EPP或XLP相关的办公室就诊次数、急诊科就诊次数和住院次数中位数为4.0 (3.5;3.0), 0.8 (1.6;0), 0.4 (1.3;分别为0)。EPP或XLP患者存在及时准确诊断、症状缓解、有效预防光毒性反应等未满足的需求。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of Dermatology
Journal of Dermatology 医学-皮肤病学
CiteScore
4.60
自引率
9.70%
发文量
368
审稿时长
4-8 weeks
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.
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