Service d'hépato-gastro-entérologie, hôpital Édouard-Herriot, hospices civils de Lyon, 69437 Lyon, France.
Service d'hépato-gastro-entérologie, hôpital Édouard-Herriot, hospices civils de Lyon, 69437 Lyon, France; Université Claude-Bernard Lyon 1, 69100 Villeurbanne, France.
Clin Res Hepatol Gastroenterol. 2019 Feb;43(1):77-81. doi: 10.1016/j.clinre.2018.08.016. Epub 2019 Jan 3.
Alpha-1-antitrypsin deficiency (A1ATD) is a common genetic condition which predisposes to emphysema and liver disorders. It is estimated that 10-15% of homozygous individuals for the Z allele (PiZZ) may develop liver fibrosis. The optimal modalities to detect liver disease in PiZZ adult patients need to be defined. The aim of this prospective study was to perform a systematic non-invasive evaluation of the liver fibrosis by elastometry using Fibroscan in a cohort of A1ATD patients with emphysema.
Patients followed in our respiratory unit were enrolled in this prospective study and underwent on the same day a physical examination, a biochemical profiling, an abdominal ultrasound (US) and a Fibroscan.
Twenty-nine PiZZ adults (19 male) were included. Median age was 50.4 yrs (21.5-67.2). Median serum A1AT level was 0.20 g/L (0.15-0.33). Liver Function Tests (LFT) were not normal in 2 patients and US was abnormal in 6 patients. Two patients had both abdnormal LFT and US. Fibroscan was technically feasible in 28/29 (97%) patients. Median liver stiffness was 4.5 kPa (2.8-32.8), and was > 7.2 kPa in 5/28 (18%) and > 14 kPa in 2/28 (7%) patients. Liver stiffness was increased in 2/2 (100%) patients with abnormal LFT and US, in 1/4 (25%) with abnormal LFT or US and in 2/22 (10%) patients with normal LFT and US.
Fibroscan is an easy and repeatable tool which can be used in PiZZ patients to screen for the presence of significant liver fibrosis and to identify patients at higher risk to develop liver complications in the future and who may benefit from a closer surveillance.
α-1-抗胰蛋白酶缺乏症（A1ATD）是一种常见的遗传疾病，易导致肺气肿和肝脏疾病。据估计，Z 等位基因（PiZZ）纯合子的 10-15%个体可能发展为肝纤维化。需要确定用于检测 PiZZ 成年患者肝病的最佳方法。本前瞻性研究的目的是通过使用 Fibroscan 对患有肺气肿的 A1ATD 患者进行系统的非侵入性肝脏纤维化评估。
我们呼吸科的患者被纳入这项前瞻性研究，并在同一天接受了体格检查、生化分析、腹部超声（US）和 Fibroscan。
29 名 PiZZ 成年患者（19 名男性）被纳入。中位年龄为 50.4 岁（21.5-67.2）。中位血清 A1AT 水平为 0.20g/L（0.15-0.33）。2 名患者的肝功能检查（LFT）异常，6 名患者的 US 异常。2 名患者同时存在 LFT 和 US 异常。28/29（97%）名患者的 Fibroscan 技术可行。中位肝硬度为 4.5kPa（2.8-32.8），5/28（18%）名患者>7.2kPa，2/28（7%）名患者>14kPa。2/2（100%）名 LFT 和 US 异常患者、1/4（25%）名 LFT 或 US 异常患者和 2/22（10%）名 LFT 和 US 正常患者的肝硬度增加。
Fibroscan 是一种简单且可重复的工具，可用于 PiZZ 患者筛查是否存在显著的肝纤维化，并识别未来发生肝脏并发症风险较高的患者，以便进行更密切的监测。
