Alpha-1 antitrypsin deficiency and Pi*Z allele as important co-factors in the development of liver fibrosis.

IF 2.5 Q2 GASTROENTEROLOGY & HEPATOLOGY
Ana Isabel Ferreira, Catarina Guimarães, Vitor Macedo Silva, Sofia Xavier, Joana Magalhães, José Cotter
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引用次数: 0

Abstract

Background: Alpha-1 antitrypsin deficiency (AATD) is a codominant autosomal hereditary condition that predisposes patients to the development of lung and/or liver disease, and Pi*Z allele is the most clinically relevant mutation.

Aim: To evaluate the impact of clinical parameters and AATD phenotypes, particularly the Pi*Z allele, in liver fibrosis.

Methods: Cross-sectional cohort study including consecutive patients with AATD followed in Pulmonology or Hepatology consultation.

Results: Included 69 patients, 49.3% had Pi*MZ phenotype and 10.1% Pi*ZZ. An age ≥ 55 years, age at diagnosis ≥ 41 years and AAT at diagnosis < 77 mg/dL predicted a nonalcoholic fatty liver disease fibrosis score (NFS) not excluding advanced fibrosis [area under the curve (AUC) = 0.840, P < 0.001; AUC = 0.836, P < 0.001; AUC = 0.681, P = 0.025]. An age ≥ 50 years and age at diagnosis ≥ 41 years predicted a fibrosis-4 index of moderate to advanced fibrosis (AUC = 0.831, P < 0.001; AUC = 0.795, P < 0.001). Patients with hypertension, type 2 diabetes mellitus (DM), dyslipidaemia, metabolic syndrome, and regular alcohol consumption were more likely to have a NFS not excluding advanced fibrosis (P < 0.001, P = 0.002, P = 0.008, P < 0.001, P = 0.033). Patients with at least one Pi*Z allele and type 2 DM were 8 times more likely to have liver stiffness measurement ≥ 7.1 kPa (P = 0.040).

Conclusion: Risk factors for liver disease in AATD included an age ≥ 50 years, age at diagnosis ≥ 41 years, metabolic risk factors, regular alcohol consumption, at least one Pi*Z allele, and AAT value at diagnosis < 77 mg/dL. We created an algorithm for liver disease screening in AATD patients to use in primary care, selecting those to be referred to Hepatology consultation.

α-1抗胰蛋白酶缺乏症和 Pi*Z 等位基因是导致肝纤维化的重要共同因素。
背景:目的:评估临床参数和AATD表型(尤其是Pi*Z等位基因)对肝纤维化的影响:方法:横断面队列研究,包括在肺科或肝科就诊的连续 AATD 患者:结果:69 名患者中,49.3% 具有 Pi*MZ 表型,10.1% 具有 Pi*ZZ 表型。年龄≥55岁、诊断年龄≥41岁、诊断时AAT<77 mg/dL可预测非酒精性脂肪肝纤维化评分(NFS),但不排除晚期纤维化[曲线下面积(AUC)=0.840,P<0.001;AUC=0.836,P<0.001;AUC=0.681,P=0.025]。年龄≥50岁和确诊时年龄≥41岁可预测纤维化-4指数为中度至晚期纤维化(AUC = 0.831,P<0.001;AUC = 0.795,P<0.001)。患有高血压、2 型糖尿病 (DM)、血脂异常、代谢综合征和经常饮酒的患者更有可能出现不排除晚期纤维化的 NFS(P < 0.001、P = 0.002、P = 0.008、P < 0.001、P = 0.033)。至少有一个Pi*Z等位基因和2型糖尿病患者肝脏硬度测量值≥7.1 kPa的几率是其他患者的8倍(P = 0.040):AATD的肝病风险因素包括年龄≥50岁、诊断年龄≥41岁、代谢风险因素、经常饮酒、至少有一个Pi*Z等位基因、诊断时AAT值< 77 mg/dL。我们创建了一种用于 AATD 患者肝病筛查的算法,可在初级保健中使用,选择需要转诊到肝病科就诊的患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
World Journal of Hepatology
World Journal of Hepatology GASTROENTEROLOGY & HEPATOLOGY-
CiteScore
4.10
自引率
4.20%
发文量
172
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