Genomic Medicine, Royal Melbourne Hospital , Parkville , Victoria, Australia.
Department of Paediatrics, The University of Melbourne , Parkville , VIC, Australia.
Psychol Health. 2019 Oct;34(10):1141-1160. doi: 10.1080/08870446.2019.1583341. Epub 2019 Mar 31.
Hereditary Haemorrhagic Telangiectasia (HHT) is a genetic condition causing frequent nose bleeds, skin lesions (telangiectasia) and arteriovenous malformations. Approximately, 50% of people experience life-threatening HHT symptoms including haemorrhages in the brain, lungs and liver. This study aimed to gain a qualitative understanding of the psychosocial impact of HHT over time. Using a phenomenological framework, a rigorous narrative analysis was performed on 20 semi-structured interviews with individuals with HHT aged 20s-60s. Qualitative themes explaining life experiences prior to and following a clinical diagnosis of HHT. Narratives highlighted four psychosocial themes: (i) the psychological impact of visible symptoms was significant and related to experiences of social stigma, (ii) individuals struggled to identify triggers of symptoms in order to reduce unpredictability, (iii) an illness identity was rejected by minimising HHT when talking about the present self, and by positive reframing as 'lucky' and (iv) self-advocacy was necessitated due to lack of expert coordinated care. HHT has a demanding impact on social, physical and psychological well-being. These findings have significant implications for health care, as narratives about interactions with health professionals often used the terms 'frustrating' and 'not being heard'.
遗传性出血性毛细血管扩张症（HHT）是一种遗传疾病，会导致频繁流鼻血、皮肤病变（毛细血管扩张）和动静脉畸形。大约有 50%的人会出现危及生命的 HHT 症状，包括大脑、肺部和肝脏出血。本研究旨在定性了解 HHT 随时间推移对患者心理社会的影响。采用现象学框架，对 20 名 20 多岁至 60 多岁的 HHT 患者进行了 20 次半结构化访谈，采用严格的叙述分析。这些定性主题解释了在临床诊断 HHT 之前和之后的生活经历。叙述强调了四个心理社会主题：（i）可见症状的心理影响很大，与社会耻辱感有关；（ii）为了减少不可预测性，患者努力确定症状的触发因素；（iii）通过最小化谈论当前自我时的 HHT 并将其积极重新定义为“幸运”，来拒绝疾病认同；（iv）由于缺乏专家协调护理，需要自我倡导。HHT 对社会、身体和心理健康都有很大的影响。这些发现对医疗保健具有重要意义，因为与卫生专业人员互动的叙述经常使用“令人沮丧”和“未被倾听”等术语。
