Navigating the diagnostic journey of epidermolysis bullosa: a qualitative study of the lived experiences and needs of parents and patients.

BACKGROUND: Epidermolysis bullosa (EB) concerns a heterogeneous group of rare genetic skin fragility disorders that result in chronic blistering and wounding. EB significantly affects the daily lives of patients, as well as their families. While advances in diagnostics are improving the speed and accuracy of EB diagnosis, little is known about the experiences and needs of parents and patients throughout their diagnostic journey. OBJECTIVES: To explore parent and patient perspectives on the EB diagnostic trajectory to gain an in-depth understanding of their lived experiences and needs. METHODS: Participants were parents of paediatric patients with EB (n = 18) and adult patients with EB (n = 8) recruited from the Dutch EB Registry. After purposive sampling, they participated in semi-structured interviews via video calls to discuss their personal diagnostic trajectory and the subsequent impact of an EB diagnosis on their (family) life. By applying a constructivist approach, a reflexive thematic analysis was executed to facilitate a dynamic and iterative process, involving inductive open coding of transcripts and constant comparison of data. RESULTS: Ten major themes were developed, representing three distinct groups: (i) parents of children with junctional EB and recessive dystrophic EB; (ii) parents of children with EB simplex and dominant dystrophic EB; and (iii) adult patients with localized EB. The EB diagnostic process appeared to have a diversity of emotional consequences, varying from desperation and uncertainty about the future to clarification and confirmation. The urgent need for a timely diagnosis and accurate prognosis was emphasized, particularly by parents of children with an extensive presentation. Parents and patients expressed shortcomings in clinical practice, with severity ratings in current EB disease terminology, in particular, seeming to have an adverse impact on illness perception, healthcare-seeking behaviour, research participation and engagement in peer support. CONCLUSIONS: This study describes the lived experience and needs of parents of children with EB and adult patients with EB during the diagnostic process. We found a pressing need to accelerate diagnostics and urge that the EB community should continue working toward ever-faster diagnosis, public awareness and education. While guiding patients along the diagnostic journey, clinicians should focus their support strategies on tailored medical communication while refraining from value-connoted wording.

Epidermolysis bullosa (or 'EB' for short) is a group of rare genetic diseases that cause the skin to be very fragile, leading to lifelong blistering and wounds. In the Netherlands, EB affects about 22 in 1 million people. It can have a huge impact on patients and their families. Although the process of diagnosing the disease is improving, we do not know how people living with EB feel about the diagnostic trajectory. This study was done in the Netherlands. To understand their experience, we interviewed 26 adults with EB and parents of children with EB. We found that getting a diagnosis of EB and living with the disease can be challenging. Each participant had different needs, largely depending on the subtype of EB they had. Parents (especially those with children with extensive EB) needed a quick and accurate diagnosis to help them understand what to expect and how to best provide care. Participants pointed out shortcomings in daily practice, such as labelling EB and assuming how serious the disease is. This affected how parents and patients understood EB, how they sought healthcare, whether they took part in research studies and how they connected with their peers. Our findings could help improve the diagnosis and care of people living with EB and their families. Our study highlights the urgent need for a faster diagnosis of EB and to increase public awareness of the disease. Clinicians should concentrate on clear and supportive communication and avoid subjective severity labelling of the disease.

Heterogeneity of reported outcomes in epidermolysis bullosa clinical research: a scoping review as a first step towards outcome harmonization.

BACKGROUND: Epidermolysis bullosa (EB) is a rare, genetically and clinically heterogeneous group of skin fragility disorders. No cure is currently available, but many novel and repurposed treatments are upcoming. For adequate evaluation and comparison of clinical studies in EB, well-defined and consistent consensus-endorsed outcomes and outcome measurement instruments are necessary. OBJECTIVES: To identify previously reported outcomes in EB clinical research, group these outcomes by outcome domains and areas and summarize respective outcome measurement instruments. METHODS: A systematic literature search was performed in the databases MEDLINE, Embase, Scopus, Cochrane CENTRAL, CINAHL, PsycINFO and trial registries covering the period between January 1991 and September 2021. Studies were included if they evaluated a treatment in a minimum of three patients with EB. Two reviewers independently performed the study selection and data extraction. All identified outcomes and their respective instruments were mapped onto overarching outcome domains. The outcome domains were stratified according to subgroups of EB type, age group, intervention, decade and phase of clinical trial. RESULTS: The included studies (n = 207) covered a range of study designs and geographical settings. A total of 1280 outcomes were extracted verbatim and inductively mapped onto 80 outcome domains and 14 outcome areas. We found a steady increase in the number of published clinical trials and outcomes reported over the past 30 years. The included studies mainly focused on recessive dystrophic EB (43%). Wound healing was reported most frequently across all studies and referred to as a primary outcome in 31% of trials. Great heterogeneity of reported outcomes was observed within all stratified subgroups. Moreover, a diverse range of outcome measurement instruments (n = 200) was identified. CONCLUSIONS: We show substantial heterogeneity in reported outcomes and outcome measurement instruments in EB clinical research over the past 30 years. This review is the first step towards harmonization of outcomes in EB, which is necessary to expedite the clinical translation of novel treatments for patients with EB.

Systematic review on antipruritic therapies for patients with Epidermolysis bullosa.

INTRODUCTION: Itch is one of the most burdensome symptoms in epidermolysis bullosa (EB), indicating a hitherto unmet therapeutic need. This review leverages existing data on efficacy of itch treatment in EB to support sound decision making. METHODS: A systematic literature search was performed on 29 March 2022. Studies written later than 1991 and reporting outcomes in patients with EB treated for itch were considered. RESULTS: Of the 3,099 articles screened, 21 studies met eligibility criteria, comprising 353 patients (65.9%) diagnosed for recessive dystrophic EB. Only two studies (9.5%) evaluated itch as primary endpoint, of which solely one revealed a significant relief of self-reported itch upon topical skin care. In those studies assessing itch as secondary endpoint (19/21, 90.5%), only 36.8% studies (n = 7/19) revealed a statistically significant itch reduction of up to 42%. Methodological limitations (heterogeneity of outcomes, inconsistent data assessment) in addition to limited superiority over control were implicated to account for low treatment efficacy observed in most studies. CONCLUSION: Current data quality impairs comparative efficacy analyses of itch treatments in EB. Large scale randomized clinical trials and more personalized approaches applying validated measurement instruments for core outcomes are needed to substantiate evidence-based treatment approaches for EB-associated itch.

Identifying Epidermolysis Bullosa Patient Needs and Perceived Treatment Benefits: An Explorative Study Using the Patient Benefit Index.

Epidermolysis bullosa (EB) is a genetic blistering skin condition for which no cure exists. Symptom alleviation and quality of life are therefore central to EB care. This study aimed to gain insight into EB patient needs and benefits from current clinical care. Two questionnaires were administered cross-sectionally to adult EB patients at the Dutch expertise centre for blistering diseases. Patient needs and benefits were analyzed using the patient benefit index survey (PBI-S). Ancillary data were compiled pertaining to self-reported EB severity, pain and pruritus, as well as current and previous treatments. In total, 104 participants were included (response rate 69.8%). Sixty-eight participants comprised the analyzed cohort (n = 36 omitted from analysis). The needs given the highest importance were to get better skin quickly (64.7%) and to be healed of all skin alterations (61.8%). A positive correlation between pain and EB severity and the importance of most needs was observed. Minimal clinically important differences within the PBI-S, relating to reported benefits from clinical care, were reported by 60.3% of the cohort. This study highlights a discrepancy between patient needs and feasible treatment outcomes. Utilizing the PBI-S in conjunction with well-established multidisciplinary care may catalyze the process of tailoring treatments to the needs of individual patients.