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急性肝性血卟啉症患者的病假、残疾和死亡率：一项全国性队列研究。

Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study.

机构信息

Norwegian Porphyria Centre (NAPOS), Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, P.O.Box 1400, N-5021, Bergen, Norway.

Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.

出版信息

Orphanet J Rare Dis. 2020 Feb 21;15(1):56. doi: 10.1186/s13023-019-1273-4.

DOI:10.1186/s13023-019-1273-4
PMID:32085780
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7035738/
Abstract

BACKGROUND

Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the general population.

METHODS

In a nationwide cohort study from 1992 to 2017, records of 333 persons (total person-years = 6728) with a confirmed AHP diagnosis were linked to several national compulsory registries (reference population = 5,819,937). We conducted survival analyses to assess additional risk.

RESULTS

Persons with AHP had higher risks of accessing long-term sick leave (adjusted hazard ratio (aHR): 1.5, 95% confidence interval (CI): 1.3, 1.7) and disability pension (aHR: 1.9, CI: 1.5, 2.4). The risk was highest in persons who had been hospitalised for acute attacks, while no additional risk was observed in asymptomatic AHP gene mutation carriers. The median age when accessing disability pension was 45 years, 21 years younger than the general population. AHP was associated with increased risk of mortality due to hepatocellular carcinoma (adjusted mortality rate ratio (aMRR): 84.4, CI: 37.8, 188.2), but no overall increased risk of premature death was observed.

CONCLUSIONS

Persons with symptomatic AHP were at increased risk of accessing long-term sick leave and disability pension but not of premature death.

摘要

背景

急性肝性血卟啉症（AHP）由三种罕见的代谢紊乱组成。我们研究了与普通人群相比，AHP 个体长期请病假、残疾抚恤金和过早死亡的风险。

方法

在 1992 年至 2017 年期间进行的一项全国性队列研究中，我们将 333 名（总人年为 6728 人）确诊 AHP 诊断的患者记录与多个国家强制性登记册相关联（参考人群为 5819937 人）。我们进行了生存分析以评估额外的风险。

结果

AHP 患者请长期病假（调整后的危险比 (aHR)：1.5，95%置信区间 [CI]：1.3，1.7）和残疾抚恤金（aHR：1.9，CI：1.5，2.4）的风险更高。住院治疗急性发作的患者风险最高，而无症状 AHP 基因突变携带者则没有额外的风险。领取残疾抚恤金的中位年龄为 45 岁，比普通人群年轻 21 岁。AHP 与肝细胞癌死亡率增加相关（调整后的死亡率比 (aMRR)：84.4，CI：37.8，188.2），但未观察到过早死亡的总体风险增加。

结论

有症状的 AHP 患者请长期病假和残疾抚恤金的风险增加，但过早死亡的风险没有增加。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3676/7035738/30abef636f6d/13023_2019_1273_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3676/7035738/8a3fb4495037/13023_2019_1273_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3676/7035738/7ef39ead8dc8/13023_2019_1273_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3676/7035738/844d77a14b4a/13023_2019_1273_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3676/7035738/7fb76dbc90ae/13023_2019_1273_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3676/7035738/30abef636f6d/13023_2019_1273_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3676/7035738/8a3fb4495037/13023_2019_1273_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3676/7035738/7ef39ead8dc8/13023_2019_1273_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3676/7035738/844d77a14b4a/13023_2019_1273_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3676/7035738/7fb76dbc90ae/13023_2019_1273_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3676/7035738/30abef636f6d/13023_2019_1273_Fig5_HTML.jpg

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