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Health-related quality-of-life evaluation in epidermolysis bullosa: a scoping review
Greta Arias-Merino1, Juan Benito-Lozano1, Mario Gómez-Martinez1
1Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
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 (FCs).
Objectives:
The aim of this scoping review was to answer a primary question 'What measurement tools are available for evaluation of HRQoL in EB?'. We also investigated two subquestions aimed at ascertaining which EB-specific HRQoL instruments are available and which of these are used for patients with EB and their FCs.
Methods:
We conducted a search of the MEDLINE/PubMed, Scopus and Web of Science databases for studies published from 23 February 2011 to 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. Interrater 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. Of these, 18 articles (56%) mentioned the Quality of Life Evaluation in Epidermolysis Bullosa (QoLEB), 2 (6%) mentioned the Instrument for Scoring Clinical Outcomes for Research of Epidermolysis Bullosa-patients (iscorEB-p), and only 1 (3%) mentioned the Infants and Toddlers Dermatology Quality of Life Epidermolysis Bullosa (InToDermQoL-EB). In contrast, only one was found for FCs, namely the Epidermolysis Bullosa Burden of Disease (EB-BoD), which was used in 9% of articles.
Conclusions:
EB-specific, dermatology-specific and generic HRQoL instruments were used in the papers reviewed. The EB-specific HRQoL questionnaires used were the iscorEB-p and QoLEB for adults and children, and the InToDermQoL-EB for children under 4 years old. For FCs, the only specific questionnaire was the EB-BoD; however, its use was not very widespread.
