PMID- 37868641 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20231030 IS - 2341-4545 (Print) IS - 2387-1954 (Electronic) IS - 2387-1954 (Linking) VI - 30 IP - 5 DP - 2023 Oct TI - Future Perspectives in the Diagnosis and Treatment of Liver Disease Associated with Alpha-1 Antitrypsin Deficiency. PG - 327-335 LID - 10.1159/000528809 [doi] AB - 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. CI - Copyright (c) 2023 by The Author(s). Published by S. Karger AG, Basel. FAU - Abreu, Nelia AU - Abreu N AD - Department of Gastroenterology, Hospital Central Do Funchal, Madeira, Portugal. FAU - Pereira, Vitor Magno AU - Pereira VM AD - Department of Gastroenterology, Hospital Central Do Funchal, Madeira, Portugal. FAU - Pestana, Madalena AU - Pestana M AD - Department of Gastroenterology, Hospital Central Do Funchal, Madeira, Portugal. FAU - Jasmins, Luis AU - Jasmins L AD - Department of Gastroenterology, Hospital Central Do Funchal, Madeira, Portugal. LA - eng PT - Journal Article PT - Review DEP - 20230201 PL - Switzerland TA - GE Port J Gastroenterol JT - GE Portuguese journal of gastroenterology JID - 101685861 PMC - PMC10586215 OTO - NOTNLM OT - Alpha-1 antitrypsin OT - Liver disease OT - Treatment COIS- The authors have no conflicts of interest to declare. EDAT- 2023/10/23 06:46 MHDA- 2023/10/23 06:47 PMCR- 2023/02/01 CRDT- 2023/10/23 04:40 PHST- 2022/07/04 00:00 [received] PHST- 2022/11/15 00:00 [accepted] PHST- 2023/10/23 06:47 [medline] PHST- 2023/10/23 06:46 [pubmed] PHST- 2023/10/23 04:40 [entrez] PHST- 2023/02/01 00:00 [pmc-release] AID - pjg-0030-0327 [pii] AID - 10.1159/000528809 [doi] PST - epublish SO - GE Port J Gastroenterol. 2023 Feb 1;30(5):327-335. doi: 10.1159/000528809. eCollection 2023 Oct.