Targeted Literature Review Exploring Burden of Disease in Junctional and Dystrophic Epidermolysis Bullosa

BACKGROUND: Epidermolysis Bullosa (EB) is a debilitating group of rare genetic disorders, characterized by skin fragility and persistent wounds. Junctional (JEB) and Dystrophic Epidermolysis Bullosa (DEB) comprise the two most severe subtypes of EB. Comprehensive studies assessing the burden of illness for these severe subtypes are limited.

OBJECTIVES: Conduct a targeted literature review (TLR) to understand the clinical, economic, and humanistic burden in individuals with JEB and DEB.

METHODS: A TLR was conducted using PRISMA Guidelines by searching full-text articles on September 18^th, 2023, reporting on clinical, economic, and humanistic burden of EB using PubMed, and Google Scholar databases. Studies were selected based on relevance, timeliness, and quality to conduct a qualitative synthesis.

RESULTS: Four studies were selected including 260 patients with EB (>60% DEB) and 210 caregivers. Two studies reported clinical burden. One reported an association between EB and the presence of malnutrition, anemia, growth retardation and tooth decay, among other clinical characteristics. Another study reported a strong correlation (r>0.8) of EB with all Leuven Itch Scale (LIS) items as well as correlations between total QoLEB scores and LIS. Humanistic burden was reported in three studies involving care-time for wounds increasing the burden for DEB patients. Caregiver burden was reported by one study, finding family caregivers of EB patients have high Zarit scores (mean= 32.4), reduced EQ-5D VAS scores (mean= 78.1), and high care-time (mean= 64.2 hours/week). A study reported economic burden highlighting high direct and indirect costs with increases in the extreme subtypes of EB.

CONCLUSIONS: This TLR identified a limited study set which indicated a substantial burden of EB that is exacerbated in the more severe subtypes of JEB and DEB. Therefore, additional research and collaboration is needed to further characterize the burden of EB and identify effective treatment options to improve wound management for this population.