Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare photodermatoses, generally presenting in childhood with severe and painful phototoxicity. EPP has been reported to negatively affect quality of life (QoL), but there is limited information on the psychosocial issues faced by patients and families. To address this, an online focus group study was conducted to explore the perspective of parents of children with EPP, and young adults and children with EPP. Five focus groups were conducted in a semi-structured format, with moderator-led discussions exploring the impact on QoL. Three focus groups included parents of children with EPP, one with children aged 10-11 years, and another with young adults aged 24-25 years, for a total of 24 participants. Thematic data analysis showed that parents experience guilt for being unable to protect their children and frustration with the current state of knowledge of EPP. Parents also admitted that the disease can lead to stress within family members which is difficult to manage. Young adults expressed embarrassment over having to explain the disease to others. They reported that the teenage years were the most difficult to navigate; however, they learned to adapt to their disease as they grew older. Children expressed that they had limited understanding of their disease and wished they were told what symptoms to expect by physicians earlier in life. Our findings emphasize the significant impact on QoL for these families and a lack of age appropriate information for children with EPP. These findings can help improve counseling and support resources for patients and caregivers.

中文翻译：

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促红细胞生成性原卟啉症的社会心理问题-父母，子女和年轻人的观点：定性研究。

促红细胞生成原卟啉症（EPP）和X连锁原卟啉症（XLP）是罕见的光皮病，通常在儿童时期出现严重而痛苦的光毒性。据报道，EPP会对生活质量（QoL）产生负面影响，但有关患者和家庭所面临的社会心理问题的信息有限。为了解决这个问题，进行了一个在线焦点小组研究，以探讨患有EPP的儿童的父母，年轻人和EPP的儿童的父母的观点。以半结构化形式进行了五个焦点小组的讨论，主持人领导的讨论探讨了对QoL的影响。三个焦点小组包括EPP儿童的父母，一个父母年龄在10-11岁之间，另一个父母年龄在24-25岁之间，总共有24名参与者。专题数据分析表明，父母因无法保护自己的孩子而感到内gui，并对当前的EPP知识状况感到沮丧。父母们也承认，这种疾病会导致家庭成员内的压力，这很难控制。年轻人对不得不向他人解释这种疾病表示尴尬。他们报告说，青少年时期最难驾驭。然而，随着年龄的增长，他们学会了适应疾病。孩子们表示他们对疾病的了解有限，并希望医生告诉他们生命早期会出现什么样的症状。我们的研究结果强调了这些家庭对QoL的重大影响，而EPP儿童缺乏适合年龄的信息。