Health-related Quality of Life in Epidermolysis Bullosa: Validation of the Dutch QOLEB Questionnaire and Assessment in the Dutch Population

Abstract

Wing Yan Yuen, Department of Dermatology, University Medical Center Groningen, Hanzeplein 1, NL-9700 RB Groningen, The Netherlands. E-mail: w.y.yuen@umcg.nl Epidermolysis bullosa (EB) consists of a spectrum of heritable trauma-induced blistering diseases of skin and mucous membranes (1). Many subtypes exist, and their clinical severity is variable, ranging from an occasional palmoplantar blister to childhood lethality (1). The health-related quality of life (HRQoL) is the impact of a disease on the physical, psychological, and social health of a patient (2). Defining HRQoL in EB patients is important in patient care and management (3). Furthermore, in recent years more focus has been placed on finding specific treatments for EB and measuring HRQoL can help in assessing the efficacy of these new treatment modalities (4, 5). Also, measuring and comparing HRQoL to other diseases can help assign funding to this rather unknown and rare disorder (4, 6). Measuring HRQoL is complicated by the wide range of phenotypes in EB, which all have their own clinical severity (3). Several studies have focused on qualitatively describing the impact of EB on patients' lives (7-11). Quantitative measurement of HRQoL has been performed using both generic and dermatology-specific instruments in EB patients (6, 12-15). However, due to ceiling effects and content validity issues of these instruments, the accuracy of the measurements is questionable. It has been hypothesised that, especially in the more severe EB subtypes, there has been an overestimation of the HRQoL (3). To overcome these problems, Frew et al. (3) developed and validated an EB-specific HRQoL measurement tool for older children and adults that can be used across all EB subtypes, called the QOLEB (quality of life in EB). Translation of the QOLEB, which was created and validated in English in Australia, to other cultures and languages may provide reliable comparisons of HRQoL in EB and the efficacy of clinical interventions across different countries (3). The aim of this study was to develop a validated and reliable QOLEB in Dutch, and to assess HRQoL in Dutch EB patients. MATERIALS AND METHODSThis study was performed at the Center for Blistering Diseases at the University Medical Center Groningen, which is the single national referral centre for EB in the Netherlands. Ethical approval was granted by the Medical Ethical Committee of the University Medical Center Groningen in the Netherlands. A signed consent form was obtained from all participating patients. Study measurement toolsThe English QOLEB is a validated and reliable adult EBspecific HRQoL tool consisting of a 17-item questionnaire, and it was developed by 2 of the authors (JWF and DFM) (3). The QOLEB measures 2 factors: functioning (questions 1-7, 9-10, 12-13, 15) and emotions (question 8, 11, 14, 16-17). For each question 4 optional answers exist that are scored from 0 to 3 points, in which a higher score represents a worse HRQoL. The functioning scale ranged from 0-36, the emotions scale from 0-15, and the ove...

Translation, cross‐cultural adaptation and validation of the Quality of Life Evaluation in Epidermolysis Bullosa instrument in Brazilian Portuguese

“…Interestingly, questions pertaining to emotional aspects of QoL (such as embarrassment) had the least impact on total scores. A similar finding was reported with the original instrument, including a very weak association with anxiety scales, and in different populations . Severely affected EB patients develop a high level of resilience, but their emotional and social interaction is very difficult because dealing with the disease requires the expenditure of an enormous amount of energy.…”

“…Compounding the sampling limitation imposed by the rarity of the disease is the fact that strongly compromised patients and their families tend not to be interested in participating in non‐interventional studies, and thus we ended up with a sample of predominantly milder forms of EB. This bias has also occurred in other studies, and strategies to increase the sample size by conducting multinational studies may help to generate more consistent data in the future.…”

“…In order to use the QoLEB for important upcoming trials, such as those in gene, protein, and cell therapy, it is vital that this outcome measure is properly validated for use in non‐English‐speaking countries. So far, it has been validated and published in Hispanic Spanish and Dutch, and translations into other languages are underway.…”

Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex

“…However, none of these studies had specific data on EBS-l patients. The inclusion of a generalized subtype of EBS could explain the lower mean QoLEB and cDLQI scores in our study than in other studies [10, 11, 18, 19]. For 73% of our adults with EBS-l, pain had a moderate to severe impact on QoL (QOLEB), as compared with 81% of adults with inherited ichthyosis (IQoL-32 scale), another severe genodermatosis [20].…”

“…Since its publication, a few studies [11, 18, 19] have analyzed QoL in EBS adult patients, with mean scores ranging from 7.9 ± 5.3/51 [19] to 13.7 ± 8.7/51. For children, we found only one study that evaluated QoL by the cDLQI, with a mean score of 15/30 [9].…”