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

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.