背景:家族性乳糜微粒血症综合征(FCS)是一种罕见的,世袭,代谢紊乱。FCS会导致血液中的高甘油三酯,会导致腹痛,黄色瘤,急性胰腺炎(AP)。Volanesorsen,与坚持极低脂饮食一起用于降低FCS患者的甘油三酯水平。我们旨在了解FCS的症状及其对健康相关生活质量(HRQoL)的影响。
方法:对英国和西班牙的FCS基因证实的个体进行了访谈,其中一些人接受了volanesorsen的治疗。采访指南是根据患者倡导小组的意见开发的,以探索症状,FCS的影响和管理。访谈通过电话进行,并进行记录和转录。使用专题分析对数据进行分析并记录饱和度。
结果:对FCS患者(年龄27-68岁)进行了17次访谈,其中13人目前/以前接受过volanesorsen治疗。AP发作是最有影响的报告症状,导致严重的腹痛,恶心,呕吐,发烧,腹胀和食欲不振。其他症状和功能问题包括腹痛,胃肠道症状,认知功能受损和疲劳。这些对工作有影响,社会活动,关系和心理健康。这些症状和影响在概念模型中得到了说明,包括管理策略。讨论了管理低脂饮食的挑战和volanesorsen的经验。
结论:FCS患者经历了一系列相互关联的症状和功能限制,这影响了他们更广泛的HRQoL。缓解症状并降低AP发作发生率的治疗具有改善这些个体的HRQoL的潜力。
BACKGROUND: Familial chylomicronemia syndrome (
FCS) is a rare, hereditary, metabolic disorder.
FCS causes high levels of triglycerides in the blood, which can lead to abdominal pain, xanthomas, and acute pancreatitis (AP). Volanesorsen, along with adherence to a very low-fat diet is used to reduce triglyceride levels in individuals with
FCS. We aimed to understand the symptoms of
FCS and their impact on health-related quality of life (HRQoL).
METHODS: Interviews were conducted with individuals with genetically confirmed
FCS in the UK and Spain, some of whom had been treated with volanesorsen. Interview guides were developed with input from a patient advocacy group to explore the symptoms, impacts and management of FCS. Interviews were conducted by telephone and were recorded and transcribed. Data were analyzed using thematic analysis and saturation was recorded.
RESULTS: Seventeen interviews were conducted with individuals with FCS (aged 27-68 years), thirteen of whom were currently/previously treated with volanesorsen. Episodes of AP were the most impactful reported symptom, resulting in severe abdominal pain, nausea, vomiting, fever, bloating and appetite loss. Other symptoms and functional issues included abdominal pain, gastrointestinal symptoms, impaired cognitive function and fatigue. These had an impact on work, social activities, relationships and psychological wellbeing. These symptoms and impacts were illustrated in a conceptual model, including management strategies. The challenges of managing a low-fat diet and experience with volanesorsen were discussed.
CONCLUSIONS: Individuals with FCS experience a range of interrelated symptoms and functional limitations which impact their broader HRQoL. Treatments which alleviate symptoms and reduce the incidence of AP episodes have the potential to improve the HRQoL of these individuals.