Economic burden and health-related quality of life in patients with epidermolysis bullosa in Spain.

Background: . Epidermolysis bullosa (EB) is a rare genetic skin disorder characterized by fragility of skin with appearance of acute and chronic wounds. The aim of this study was to determine the economic burden and the health-related quality of life (HRQoL) of patients with epidermolysis bullosa (EB) in Spain from a societal perspective.

Methods: . We conducted a cross-sectional, retrospective study including 62 patients with EB (62% dystrophic, 9.6% junctional, 3.2% Kindler syndrome, and 26% with simplex EB). Data were collected from questionnaires completed by patients or their caregivers. The costs were estimated, including not only direct healthcare costs but also direct non-healthcare costs and productivity losses. We compared severe EB (Dystrophic, Junctional EB and Kindler syndrome) to non-severe EB (simplex EB) using as reference year 2022. HRQoL was measured by generic (EQ-5D) and specific (QoLEB) questionnaires.

Results: The average annual cost for an EB patient was €31,352. Direct healthcare costs represented 17.2% of the total cost, direct non-healthcare costs (mainly informal care costs) 71.3% and productivity losses 11.5% of the total cost. Participants in the severe EB group had a slightly higher average cost than participants in the non-severe EB group (€31,706 vs. €30,337). Direct healthcare costs and non-healthcare costs were higher in the severe EB group (€6,205 vs. €3,024 and €23,148 vs. €20,113) while productivity losses were higher in the non-severe EB group (€7,200 vs. €2,353). The mean utility index score, where the maximum value possible is one, was 0.45 for patients with severe EB (0.76 for their caregivers) and 0.62 for those with non-severe EB (0.77 for their caregivers).

Conclusions: . The social economic burden of EB, resulting from the high direct non-healthcare cost of informal care, and from the loss of productivity, accentuates the importance of not restricting cost analysis to direct healthcare costs. This substantiates that EB, particularly severe EB represents a significant hidden cost that should be revealed to society and should be considered in the support programmes for people who suffer from this disease, and in the economic evaluation of new treatments.