Alpha-1 antitrypsin deficiency (AATD) is one of the most common genetic diseases and is caused by mutations in the SERPINA1 gene. The homozygous Pi*Z variant is responsible for the majority of the classic severe form of alpha-1 antitrypsin deficiency, which is characterized by markedly decreased levels of serum alpha-1 antitrypsin (AAT) with a strong predisposition to lung and liver disease. The diagnosis and early treatment of AATD-associated liver disease are challenges in clinical practice. In this review, the authors aim to summarize the current evidence of the non-invasive methods in the assessment of liver fibrosis, as well as to elucidate the main therapeutic strategies under investigation that may emerge in the near future.
GE Port J Gastroenterol

中文翻译：

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与 Alpha-1 抗胰蛋白酶缺乏相关的肝病的诊断和治疗的未来前景

Alpha-1 抗胰蛋白酶缺乏症 (AATD) 是最常见的遗传性疾病之一，由 SERPINA1 基因突变引起。纯合 Pi*Z 变异是导致大多数经典严重形式的 α-1 抗胰蛋白酶缺乏症的原因，其特征是血清 α-1 抗胰蛋白酶 (AAT) 水平显着降低，极易患肺和肝疾病。AATD 相关肝病的诊断和早期治疗是临床实践中的挑战。在这篇综述中，作者旨在总结目前肝纤维化评估中非侵入性方法的证据，并阐明正在研究中的、在不久的将来可能出现的主要治疗策略。
GE Port J 胃肠科