Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
University of Arizona College of Nursing, Tucson, AZ, USA.
Qual Life Res. 2023 Feb;32(2):605-614. doi: 10.1007/s11136-022-03266-0. Epub 2022 Oct 31.
Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by high triglyceride levels, significant disease burden, and negative impacts on health-related quality of life. This project aimed to create a PROMIS-based patient-reported outcome measure that represents valid and important concerns for patients with FCS.
We reviewed the literature and data from a previous qualitative study of FCS to identify key FCS symptoms and impacts, which were mapped to PROMIS domains to create a pool of eligible items. Candidate items were reduced per expert feedback and patients with FCS completed cognitive interviews to confirm content validity and measure content.
Literature and qualitative data review identified ten key symptoms and 12 key impacts of FCS, including abdominal pain, fatigue, difficulty thinking, and worry about pancreatitis attacks. We identified 96 items primarily from PROMIS, supplemented with items from the Quality of Life in Neurological Disorders™ (Neuro-QoL™) and the Functional Assessment of Chronic Illness Therapy (FACIT) measurement systems. This pool was reduced to 32 candidate items, which were assessed via cognitive interviews with eight participants with FCS. Cognitive interview results and additional expert feedback led to the removal of four items and finalization of the PROMIS Profile v1.0-familial chylomicronemia syndrome (FCS) 28.
The PROMIS Profile v1.0-familial chylomicronemia syndrome (FCS) 28 provides strong content validity for assessing quality of life among patients with FCS. The benefits of PROMIS, including norm-referenced mean values for each measure, will facilitate comparison of patients with FCS to other clinical populations.
家族性乳糜微粒血症综合征（FCS）是一种罕见的遗传性疾病，其特征是甘油三酯水平高、疾病负担重，并对健康相关生活质量产生负面影响。本项目旨在创建一种基于 PROMIS 的患者报告结局测量工具，该工具代表了 FCS 患者的重要问题。
我们回顾了文献和先前 FCS 定性研究的数据，以确定 FCS 的关键症状和影响，并将其映射到 PROMIS 领域，以创建合格项目的池。根据专家反馈减少候选项目，并让 FCS 患者完成认知访谈，以确认内容的有效性和测量内容。
文献和定性数据分析确定了 FCS 的十个关键症状和 12 个关键影响，包括腹痛、疲劳、思维困难和担心胰腺炎发作。我们主要从 PROMIS 中确定了 96 项指标，并用来自神经疾病生活质量量表（Neuro-QoL）和慢性疾病治疗功能评估量表（FACIT）的指标进行补充。该池减少到 32 个候选项目，这些项目通过与 8 名 FCS 患者的认知访谈进行评估。认知访谈结果和其他专家反馈导致删除了 4 个项目，并最终确定了 PROMIS 简表 v1.0-家族性乳糜微粒血症综合征（FCS）28。
PROMIS 简表 v1.0-家族性乳糜微粒血症综合征（FCS）28 为评估 FCS 患者的生活质量提供了良好的内容有效性。PROMIS 的优点包括每个测量指标的正态参照均值，将有助于将 FCS 患者与其他临床人群进行比较。
