BACKGROUND Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes. METHODS A 90-question/item survey was developed to collect demographics, diagnostic data, management practices, and burden of illness information for patients with epidermolysis bullosa living in the United States. Recruitment was conducted via email and social media in partnership with epidermolysis bullosa patient advocacy organizations in the United States, and the survey was conducted via telephone interview by a third-party health research firm. Respondents aged ≥ 18 years with a confirmed diagnosis of epidermolysis bullosa or caring for a patient with a confirmed diagnosis of epidermolysis bullosa were eligible to participate in the survey. RESULTS In total, 156 responses were received from patients (n = 63) and caregivers (n = 93) representing the epidermolysis bullosa types of simplex, junctional, and dystrophic (subtypes: dominant and recessive). A large proportion of patients (21%) and caregivers (32%) reported that the condition was severe or very severe, and 19% of patients and 26% of caregivers reported a visit to an emergency department in the 12 months prior to the survey. Among the types/subtypes represented, recessive dystrophic epidermolysis bullosa results in the greatest wound burden, with approximately 60% of patients and caregivers reporting wounds covering > 30% of total body area. Wound care is time consuming and commonly requires significant caregiver assistance. Therapeutic options are urgently needed and reducing the number and severity of wounds was generally ranked as the most important treatment factor. CONCLUSIONS Survey responses demonstrate that epidermolysis bullosa places a considerable burden on patients, their caregivers, and their families. The limitations caused by epidermolysis bullosa mean that both patients and caregivers must make difficult choices and compromises regarding education, career, and home life. Finally, survey results indicate that epidermolysis bullosa negatively impacts quality of life and causes financial burden to patients and their families.

中文翻译：

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生活和管理大疱性表皮松解的挑战：患者和护理人员的见解。

背景技术关于与大疱性表皮松解症生活和管理负担的信息很少，包括具有不同疾病类型/亚型的患者所面临的独特挑战。方法开展了一个90个问题/项目的调查，以收集居住在美国的大疱性表皮松解患者的人口统计学，诊断数据，管理方法和疾病负担信息。招聘是通过电子邮件和社交媒体与美国大疱性表皮松解患者倡导组织合作进行的，调查是通过第三方健康研究公司的电话采访进行的。年龄≥18岁且确诊为大疱性表皮松解的确诊者或照顾确诊为大疱性表皮松解的患者有资格参加调查。结果总共从患者（n = 63）和护理人员（n = 93）收到156份反应，分别代表单纯性，交界性和营养不良（亚型：显性和隐性）的大疱性表皮松解类型。很大一部分患者（21％）和看护者（32％）报告说病情严重或非常严重，在调查前的12个月中，有19％的患者和26％的看护者报告去过急诊科。在所代表的类型/亚型中，隐性营养不良性大疱性表皮松解导致最大的伤口负担，大约60％的患者和护理人员报告伤口覆盖> 身体总面积的30％。伤口护理非常耗时，通常需要大量的护理人员帮助。迫切需要治疗选择，减少伤口的数量和严重程度通常被认为是最重要的治疗因素。结论调查结果表明，大疱性表皮松解症给患者，其护理人员及其家人带来了相当大的负担。大疱表皮松解术造成的局限性意味着患者和护理人员都必须在教育，职业和家庭生活方面做出艰难的选择和折衷。最后，调查结果表明，大疱性表皮松解术对生活质量产生负面影响，并给患者及其家人带来经济负担。迫切需要治疗选择，减少伤口的数量和严重程度通常被认为是最重要的治疗因素。结论调查结果表明，大疱性表皮松解症给患者，其护理人员及其家人带来了相当大的负担。大疱表皮松解术造成的局限性意味着患者和护理人员都必须在教育，职业和家庭生活方面做出艰难的选择和折衷。最后，调查结果表明，大疱性表皮松解术对生活质量产生负面影响，并给患者及其家人带来经济负担。迫切需要治疗选择，减少伤口的数量和严重程度通常被认为是最重要的治疗因素。结论调查结果表明，大疱性表皮松解症给患者，其护理人员及其家人带来了相当大的负担。大疱表皮松解术造成的局限性意味着患者和护理人员都必须在教育，职业和家庭生活方面做出艰难的选择和折衷。最后，调查结果表明，大疱性表皮松解术对生活质量产生负面影响，并给患者及其家人带来经济负担。结论调查结果表明，大疱性表皮松解症给患者，其护理人员及其家人带来了相当大的负担。大疱表皮松解术造成的局限性意味着患者和护理人员都必须在教育，职业和家庭生活方面做出艰难的选择和折衷。最后，调查结果表明，大疱性表皮松解术对生活质量产生负面影响，并给患者及其家人带来经济负担。结论调查结果表明，大疱性表皮松解症给患者，其护理人员及其家人带来了相当大的负担。大疱表皮松解术造成的局限性意味着患者和护理人员都必须在教育，职业和家庭生活方面做出艰难的选择和折衷。最后，调查结果表明，大疱性表皮松解术会对生活质量产生负面影响，并给患者及其家人带来经济负担。