Facing the complex challenges of people with epidermolysis bullosa in Austria: a mixed methods study on burdens and helpful practices

Orphanet J Rare Dis. 2024 May 21;19(1):211. doi: 10.1186/s13023-024-03163-4.

Abstract

Background: With approximately 500 people affected in Austria, epidermolysis bullosa (EB) is a rare genetic skin disease reducing the quality of life of those affected and their relatives. The intensive efforts of the patient organisation DEBRA Austria during the last decades have led to a unique situation of those affected and their relatives, with increased support and broader knowledge about the disease in the general population. The aim of the study is to evaluate the current situation of patients and their relatives living in Austria, with a focus on burdens and helpful practices.

Results: The mixed-methods study consisted of two parts: a qualitative interview study to identify psychosocial aspects of EB in those affected and their relatives, and a subsequent online survey to further assess those aspects in a larger sample, resulting in a total of n=78 Austrian participants. The impact of EB on the quality of life of EB patients and their relatives in Austria is related to the current health status, psychological burden, mobility, visibility, financial situation as well as job prospects. Personal and social resources and external support have a significant influence on the individual situation.

Conclusions: The outcome is mapped to concrete implications regarding targeted support for EB patients and their relatives on an individual level and their needs in regard to the Austrian health care system.

Keywords: Burden; Epidermolysis bullosa; Healthcare system; Quality of life; Resources.

MeSH terms

  • Adult
  • Austria / epidemiology
  • Epidermolysis Bullosa*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Quality of Life*
  • Surveys and Questionnaires
  • Young Adult

Grants and funding