Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study.

Background: Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin fragility disorder requiring multidisciplinary management. Information regarding costs of current standard treatment is scant. Objectives: As part of a longitudinal natural history study, we explored the community care costs of UK patients with different forms of RDEB. Methods: Fifty-nine individuals with RDEB provided detailed information on multiple facets of RDEB including disease severity scores (iscorEB, BEBS) and patient reported outcomes (quality of life evaluation in epidermolysis bullosa, iscorEB patient questionnaire). Costs data included time spent doing dressings, frequency of dressing changes, details of materials used, and paid and unpaid care. Results: Overall costs of dressing materials and associated care were high in RDEB. Median annual costs across all subtypes for those using dressings (n = 51) were over £26 000. For severe RDEB (RDEB-S), median costs were almost £90 000 per annum, with a median of 18 h per week spent on dressing changes. Half of working-age adults with RDEB were unemployed and 39% of carers were unable to take on full-time or part-time paid employment, adding to indirect costs and the financial burden from RDEB on families and society. Conclusions: The findings demonstrate the high costs of care of RDEB, particularly for RDEB-S. The current expense supports the drive to develop new therapies which accelerate wound healing and diminish total wound burden, thereby reducing costs of dressings and care. While costly to bring to market, these might ultimately reduce the overall cost of treatment and also the impact on individuals living with this rare disease. The data also highlight the need for adequate reimbursement for EB care which can place significant financial strain on families.

Living in dressings and bandages: findings from workshops with people with Epidermolysis bullosa.

Epidermolysis bullosa (EB) is an inherited disorder causing extensive, painful skin blistering and wounds. Currently, there is no cure and the focus of care is on the clinical management of the skin and other affected body systems, together with supportive care to individuals and families. The wound care for Epidermolysis bullosa (WEB) project is a collaboration with adults with EB, carers, clinical nurse specialists, a designer and manufacturers to develop novel products for EB wound care. This article reports the findings from workshops with adults with EB, their carers and clinical nurse specialists, together with observations of dressing changes. A cluster of significant limitations were revealed in the performance of wound care products, designed to cover a single wound, when they are used to cover extensive and whole body wounds. A working hypothesis for EB wound care was developed from the findings, together with design concepts and new products for EB wound care. In addition, a model of user engagement in medical device development and evaluation has been tested.

Co-producing novel wound care products for Epidermolysis bullosa; an empirical case study of the use of surrogates in the design and prototype development process.

The Woundcare for Epidermolysis bullosa (WEB) project aims to enable people with Epidermolysis bullosa (EB), their carers and clinicians to co-produce wound care products to meet their needs. EB is an inherited disorder causing extensive, painful skin blistering and wounds. It is relatively rare, with approximately 300 000 patients worldwide, but it incurs high costs (up to £50 000 per month on products alone). During the course of four workshops, adults with EB, their carers and specialist nurses gave detailed accounts of their experiences with pre-sized, pre-shaped dressings, including the need to patchwork individual dressings over large areas of broken skin. Five themes were identified from the workshop data relating to the limitations of existing products for EB wounds: dressing fit, stability, comfort, temperature and exudate. Novel designs were generated from these themes and although the intention was to develop the designs iteratively with the workshop participants, issues arose necessitating the interim use of surrogates. Our account of the design process is given, presenting the arguments for and against the use of surrogates, with suggestions for incorporating surrogate input into product development in a way that does not undermine the integrity of patient experiences or the co-production process.

Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study.

BACKGROUND: Itch is common and distressing in epidermolysis bullosa (EB) but has not previously been studied in depth in different recessive dystrophic EB (RDEB) subtypes. OBJECTIVES: As part of a prospective register study of the natural history of RDEB we explored features of itch, medications used, and correlation with disease severity and quality of life. METHODS: Fifty individuals with RDEB aged 8 years and above completed the Leuven Itch Scale (LIS) (total 243 reviews over a 7-year period). Data included itch frequency, severity, duration, distress, circumstances, consequences, itch surface area and medications for itch. The iscorEB disease severity score and the validated EB quality of life tool, QOLEB, were compared to LIS domains and analysed by RDEB subtype. RESULTS: Itch was frequent, present in the preceding month in 93% of reviews. Itch severity and distress were significantly greater in severe (RDEB-S) and pruriginosa (RDEB-Pru) subtypes compared to intermediate RDEB (RDEB-I). Itch medications were reported in just over half of reviews including emollients, topical corticosteroids and antihistamines; the proportion of participants not using medication despite frequent pruritus suggests limited efficacy. In inversa RDEB (RDEB-Inv) and RDEB-I, LIS domains correlated with iscorEB and QOLEB. In contrast to previous studies, correlations were lacking in RDEB-S suggesting that global disease burden relatively reduces the contribution of itch. CONCLUSIONS: This comprehensive study of RDEB-associated itch highlights differences between RDEB subtypes, suggests an unmet need for effective treatments and could serve as control data for future clinical trials incorporating itch as an endpoint.

Epidermolysis bullosa. Part 1: causes, presentation and complications.

This article is the first in a series of three focusing on the causes, clinical presentation, complications and care of adult patients affected by epidermolysis bullosa (EB), a group of rare genetic skin fragility disorders. Although the condition is rare, in some cases it presents extreme challenges both to those affected and those involved in the care of the EB patient; therefore, these articles may have relevance for other long-term disorders. While there is a wealth of information regarding the 'science' of EB there is dearth of information regarding the care of the adult EB patient, and this series of articles will endeavour to fill that gap. This article focuses mainly on those patients affected with the most severe form of EB found in the adult group, recessive dystrophic epidermolysis bullosa; with the part two looking at the care of the adult with EB from the nursing perspective, including wound management, and the experiences of a specialist EB psychotherapist being presented in the final article of the series. Readers will thus have an opportunity to gain an overall view of this difficult condition.