大疱性表皮松解症的健康相关生活质量评估：一项范围综述

Health-related quality of life evaluation in epidermolysis bullosa: a scoping review.

作者信息

Arias-Merino Greta, Benito-Lozano Juan, Gómez-Martinez Mario, Villaverde-Hueso Ana, Linertová Renata, Alonso-Ferreira Verónica

机构信息

Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.

Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.

出版信息

Br J Dermatol. 2025 Jul 15. doi: 10.1093/bjd/ljaf274.

DOI:10.1093/bjd/ljaf274

PMID:40663702

Abstract

BACKGROUND

Epidermolysis bullosa (EB) is a group of rare, congenital, inherited skin disorders. Evaluation of health related quality-of-life (HRQoL) is key to understanding a disease's psychosocial and emotional impact on patients and on their family caregivers (FC).

OBJECTIVES

The aim of this scoping review was to answer: a main question, i.e., "What measurement tools are available for evaluation of HRQoL in EB?"; and two sub-questions aimed at ascertaining, firstly, which EB-specific HRQoL instruments are available, and secondly, which of these are used for EB patients and their FC, respectively.

METHODS

We conducted a search of the MEDLINE/PubMed, Scopus and Web of Science (WOS) databases for studies published from 23-02-2011 through early 2024. Working separately, two independent reviewers screened the references and evaluated the papers identified.

RESULTS

Of a total of 300 papers, 120 were discarded for being duplicates, 180 were screened by title and abstract, and 43 underwent a full-text peer review. Inter-rater reliability between the independent reviewers was good in the review by title and abstract (κ=0.75), and moderate in the full-text review (κ=0.54). The final analysis was performed on 32 papers. Three EB-specific HRQoL questionnaires were found for patients, i.e., 18 articles (56.3%) mentioned the Quality-of-Life Evaluation in Epidermolysis Bullosa (QoLEB), two (6.25%) the Instrument for Scoring Clinical Outcomes for Research of Epidermolysis Bullosa-patients (iscorEB-p), and only one (3.1%) the Infants and Toddlers Dermatology Quality-of-Life Epidermolysis Bullosa (InToDermQoL-EB). In contrast, only one was found for FC: the Epidermolysis Bullosa Burden of Disease (EB-BoD) which was used in 9.4% of articles.

CONCLUSIONS

EB-specific, dermatology-specific, and generic HRQoL instruments were used in the papers reviewed. The EB-specific HRQoL questionnaires are the iscorEB-p and QoLEB for adults and children, and the InToDermQoL-EB for children under 4 years old. For FC, the only specific questionnaire is the EB-BoD, though its use is not very widespread.

摘要

背景

大疱性表皮松解症（EB）是一组罕见的先天性遗传性皮肤病。评估健康相关生活质量（HRQoL）是了解疾病对患者及其家庭照顾者（FC）心理社会和情感影响的关键。

目的

本范围综述的目的是回答以下问题：一个主要问题，即“有哪些测量工具可用于评估EB患者的HRQoL？”；以及两个子问题，首先确定有哪些针对EB的HRQoL工具，其次确定其中哪些分别用于EB患者及其FC。

方法

我们在MEDLINE/PubMed、Scopus和科学网（WOS）数据库中搜索了2011年2月23日至2024年初发表的研究。两名独立评审员分别筛选参考文献并评估所确定的论文。

结果

在总共300篇论文中，120篇因重复而被剔除，180篇通过标题和摘要进行筛选，43篇进行了全文同行评审。在标题和摘要评审中，独立评审员之间的评分者间信度良好（κ=0.75），在全文评审中为中等（κ=0.54）。最终对32篇论文进行了分析。发现了三种针对患者的EB特异性HRQoL问卷，即18篇文章（56.3%）提到了大疱性表皮松解症生活质量评估（QoLEB），两篇（6.25%）提到了大疱性表皮松解症患者研究临床结局评分工具（iscorEB-p），只有一篇（3.1%）提到了婴幼儿皮肤病生活质量大疱性表皮松解症问卷（InToDermQoL-EB）。相比之下，针对FC仅发现一种：大疱性表皮松解症疾病负担问卷（EB-BoD），9.4%的文章使用了该问卷。