A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex
Abstract Background Epidermolysis bullosa simplex (EBS) comprises a group of rare, blistering genodermatoses. Prior work has been limited by small sample sizes, and much remains unexplored about the disease burden and health-related quality of life (QOL) of patients with EBS. The aim of this study w...
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| Format: | Article |
| Language: | English |
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BMC
2022-07-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-022-02433-3 |
| _version_ | 1811293686403694592 |
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| author | Jodi Y. So Shivali Fulchand Christine Y. Wong Shufeng Li Jaron Nazaroff Emily S. Gorell Mark P. de Souza Dedee F. Murrell Joyce M. Teng Albert S. Chiou Jean Y. Tang |
| author_facet | Jodi Y. So Shivali Fulchand Christine Y. Wong Shufeng Li Jaron Nazaroff Emily S. Gorell Mark P. de Souza Dedee F. Murrell Joyce M. Teng Albert S. Chiou Jean Y. Tang |
| author_sort | Jodi Y. So |
| collection | DOAJ |
| description | Abstract Background Epidermolysis bullosa simplex (EBS) comprises a group of rare, blistering genodermatoses. Prior work has been limited by small sample sizes, and much remains unexplored about the disease burden and health-related quality of life (QOL) of patients with EBS. The aim of this study was to characterize the most common patient-reported clinical manifestations and the health-related impact of QOL in EBS, and to examine differences in disease burden by age. Methods Patients with a diagnosis of epidermolysis bullosa (EB) or their caregivers completed a one-time online survey administered by EBCare, an international online EB registry. Survey data from respondents self-reporting a diagnosis of EBS were analyzed for clinical and wound manifestations, medication use, and QOL (using Quality of Life in Epidermolysis Bullosa [QOLEB] scores). Differences across age groups were assessed using Kruskal–Wallis and Fisher’s exact tests. Results There were 214 survey respondents with EBS. The mean age was 32.8 years (standard deviation = 19.2). Many respondents reported blisters (93%), recurrent wounds (89%), pain (74%), chronic wounds (59%), itch (55%), and difficulty walking (44%). Mean QOLEB score was 14.7 (standard deviation = 7.5) indicating a “moderate” impact on QOL, and 12% of respondents required regular use of opiates. Findings were consistent in subgroup analyses restricted to respondents with diagnostic confirmation via genetic testing or skin biopsy (n = 63 of 214). Age-stratified analyses revealed differences in disease burden: younger respondents were more likely to self-report severe disease (24% vs. 19% vs. 5% for respondents aged 0–9 vs. 10–17 vs. 18 + , p = 0.001), failure to thrive (9% vs. 15% vs. 3%, p = 0.02), and use of gastrostomy tubes (15% vs. 12% vs. 1%, p < 0.001) and topical antibiotics (67% vs. 69% vs. 34%, p < 0.001), while older respondents were more likely to be overweight or obese (6% vs. 0% vs. 51%, p < 0.001) and have difficulty walking (24% vs. 46% vs. 48%, p = 0.04). Conclusions In the largest international cross-sectional survey of EBS patients conducted, respondents reported extensive disease burden including significant wounding, pain, itch, difficulty walking, and impact on QOL. Age stratified disease manifestations. These findings suggest significant unmet need, and treatment and counseling for EBS patients should consider age-specific differences. |
| first_indexed | 2024-04-13T05:05:07Z |
| format | Article |
| id | doaj.art-1b1e3d519b0047a09df70451e19825ed |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-13T05:05:07Z |
| publishDate | 2022-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-1b1e3d519b0047a09df70451e19825ed2022-12-22T03:01:11ZengBMCOrphanet Journal of Rare Diseases1750-11722022-07-0117111410.1186/s13023-022-02433-3A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplexJodi Y. So0Shivali Fulchand1Christine Y. Wong2Shufeng Li3Jaron Nazaroff4Emily S. Gorell5Mark P. de Souza6Dedee F. Murrell7Joyce M. Teng8Albert S. Chiou9Jean Y. Tang10Department of Dermatology, Stanford University School of MedicineDepartment of Dermatology, Stanford University School of MedicineDepartment of Dermatology, Stanford University School of MedicineDepartment of Dermatology, Stanford University School of MedicineDepartment of Dermatology, Stanford University School of MedicineDepartment of Dermatology, University of Cincinnati, College of MedicinePhoenix Tissue Repair, Inc.Department of Dermatology, University of New South WalesDepartment of Dermatology, Stanford University School of MedicineDepartment of Dermatology, Stanford University School of MedicineDepartment of Dermatology, Stanford University School of MedicineAbstract Background Epidermolysis bullosa simplex (EBS) comprises a group of rare, blistering genodermatoses. Prior work has been limited by small sample sizes, and much remains unexplored about the disease burden and health-related quality of life (QOL) of patients with EBS. The aim of this study was to characterize the most common patient-reported clinical manifestations and the health-related impact of QOL in EBS, and to examine differences in disease burden by age. Methods Patients with a diagnosis of epidermolysis bullosa (EB) or their caregivers completed a one-time online survey administered by EBCare, an international online EB registry. Survey data from respondents self-reporting a diagnosis of EBS were analyzed for clinical and wound manifestations, medication use, and QOL (using Quality of Life in Epidermolysis Bullosa [QOLEB] scores). Differences across age groups were assessed using Kruskal–Wallis and Fisher’s exact tests. Results There were 214 survey respondents with EBS. The mean age was 32.8 years (standard deviation = 19.2). Many respondents reported blisters (93%), recurrent wounds (89%), pain (74%), chronic wounds (59%), itch (55%), and difficulty walking (44%). Mean QOLEB score was 14.7 (standard deviation = 7.5) indicating a “moderate” impact on QOL, and 12% of respondents required regular use of opiates. Findings were consistent in subgroup analyses restricted to respondents with diagnostic confirmation via genetic testing or skin biopsy (n = 63 of 214). Age-stratified analyses revealed differences in disease burden: younger respondents were more likely to self-report severe disease (24% vs. 19% vs. 5% for respondents aged 0–9 vs. 10–17 vs. 18 + , p = 0.001), failure to thrive (9% vs. 15% vs. 3%, p = 0.02), and use of gastrostomy tubes (15% vs. 12% vs. 1%, p < 0.001) and topical antibiotics (67% vs. 69% vs. 34%, p < 0.001), while older respondents were more likely to be overweight or obese (6% vs. 0% vs. 51%, p < 0.001) and have difficulty walking (24% vs. 46% vs. 48%, p = 0.04). Conclusions In the largest international cross-sectional survey of EBS patients conducted, respondents reported extensive disease burden including significant wounding, pain, itch, difficulty walking, and impact on QOL. Age stratified disease manifestations. These findings suggest significant unmet need, and treatment and counseling for EBS patients should consider age-specific differences.https://doi.org/10.1186/s13023-022-02433-3Epidermolysis bullosa simplexEpidermolysis bullosaGenodermatosesBullous dermatosesQuality of lifePatient-reported outcomes |
| spellingShingle | Jodi Y. So Shivali Fulchand Christine Y. Wong Shufeng Li Jaron Nazaroff Emily S. Gorell Mark P. de Souza Dedee F. Murrell Joyce M. Teng Albert S. Chiou Jean Y. Tang A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex Orphanet Journal of Rare Diseases Epidermolysis bullosa simplex Epidermolysis bullosa Genodermatoses Bullous dermatoses Quality of life Patient-reported outcomes |
| title | A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex |
| title_full | A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex |
| title_fullStr | A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex |
| title_full_unstemmed | A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex |
| title_short | A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex |
| title_sort | global cross sectional survey of patient reported outcomes disease burden and quality of life in epidermolysis bullosa simplex |
| topic | Epidermolysis bullosa simplex Epidermolysis bullosa Genodermatoses Bullous dermatoses Quality of life Patient-reported outcomes |
| url | https://doi.org/10.1186/s13023-022-02433-3 |
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