Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Genet Med. 2020 Mar;22(3):590-597. doi: 10.1038/s41436-019-0683-y. Epub 2019 Nov 6.
Acute intermittent porphyria (AIP) is a rare inborn error of heme biosynthesis characterized by life-threatening acute attacks. Few studies have assessed quality of life (QoL) in AIP and those that have had small sample sizes and used tools that may not have captured important domains.
Baseline data from the Porphyrias Consortium's Longitudinal Study were obtained for 259 patients, including detailed disease and medical history data, and the following Patient-Reported Outcomes Measurement Information System (PROMIS) scales: anxiety, depression, pain interference, fatigue, sleep disturbance, physical function, and satisfaction with social roles. Relationships between PROMIS scores and clinical and biochemical AIP features were explored.
PROMIS scores were significantly worse than the general population across all domains, except depression. Each domain discriminated well between asymptomatic and symptomatic patients with symptomatic patients having worse scores. Many important clinical variables like symptom frequency were significantly associated with domain scores in univariate analyses, showing responsiveness of the scales, specifically pain interference and fatigue. However, most regression models only explained ~20% of the variability observed in domain scores.
Pain interference and fatigue were the most responsive scales in measuring QoL in this AIP cohort. Future studies should assess whether these scales capture longitudinal disease progression and treatment response.
急性间歇性卟啉症（AIP）是一种罕见的血红素生物合成先天性错误，其特征为危及生命的急性发作。很少有研究评估 AIP 的生活质量（QoL），而且这些研究的样本量较小，使用的工具可能无法捕捉到重要的领域。
从卟啉症联合会的纵向研究中获得了 259 名患者的基线数据，包括详细的疾病和病史数据，以及以下患者报告的结果测量信息系统（PROMIS）量表：焦虑、抑郁、疼痛干扰、疲劳、睡眠障碍、身体功能和对社会角色的满意度。探讨了 PROMIS 评分与临床和生化 AIP 特征之间的关系。
除了抑郁之外，所有领域的 PROMIS 评分都明显差于一般人群。每个领域都能很好地区分无症状和有症状的患者，有症状的患者得分更差。许多重要的临床变量，如症状频率，在单变量分析中与各域评分显著相关，显示出这些量表的反应性，特别是疼痛干扰和疲劳。然而，大多数回归模型仅解释了观察到的域评分变化的约 20%。
在测量该 AIP 队列的生活质量时，疼痛干扰和疲劳是最敏感的量表。未来的研究应评估这些量表是否能捕捉到疾病的纵向进展和治疗反应。
