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Liver Elastography pp 187–195Cite as

Liver Fibrosis Assessment in Adults with Alpha1-Antitrypsin Deficiency

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Abstract

Alpha1-antitrypsin deficiency is a genetic disorder elicited by mutations in alpha1-antitrypsin (AAT) gene. Among them, a homozygous Pi∗Z mutation (Pi∗ZZ genotype) causes early-onset lung emphysema and liver fibrosis, while heterozygous Pi∗Z carriage (Pi∗MZ genotype) is considered a risk factor for development of liver cirrhosis in patients with nonalcoholic and alcoholic liver disease. In Pi∗ZZ homozygotes, liver disease constitutes the second leading cause of death and 35% of Pi∗ZZ individuals display a histologically proven, significant liver fibrosis (i.e. F ≥ 2). Among, noninvasive methods, liver stiffness measurement (LSM) via transient elastography (TE) has been most extensively evaluated. Based on these data, Pi∗ZZ subjects have a 20× increased risk of developing advanced liver fibrosis (i.e. F ≥ 3) than adults without AAT mutation. Males, individuals ≥50 years old and/or displaying metabolic syndrome carry a particularly high risk. In contrast to TE, other elastography methods have been evaluated only in small studies and further analyses are needed to determine their usefulness. Among blood-based tests, AST-to-platelet ratio index (APRI) is based on routinely available parameters and correlates moderately with LSM. Given its wide availability, it can be used for risk stratification when LSM is not at hand. Despite recent efforts, AATD-related liver disease remains a greatly understudied disease.

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Abbreviations

AAT:

Alpha1-antitrypsin

AATD:

Alpha1-antitrypsin deficiency

CAP:

Controlled attenuation parameter

LSM:

Liver stiffness measurements

Pi∗M:

Normal AAT allele

Pi∗MM:

Normal AAT genotype

Pi∗MZ:

AAT genotype with heterozygosity for the Pi∗Z variant

Pi∗S/Pi∗Z:

Mutant AAT allele variants

TE:

Transient elastography (FibroScan(R))

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Acknowledgements

P.S. is supported by the Deutsche Forschungsgemeinschaft (DFG) consortium SFB/TRR57 “Liver fibrosis” and unrestricted research grants from Grifols and CSL Behring.

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Authors and Affiliations

  1. Department of Gastroenterology, Centro Hospitalar do Funchal, Madeira, Portugal

    Vítor Magno Pereira

  2. Coordinating Center for Alpha1-Antitrypsin Deficiency-Related Liver Disease of the European Reference Network on Hepatological Diseases (ERN-RARE-LIVER) and the European Association for the Study of the Liver Registry Group “Alpha1-Liver”, Aachen, Germany

    Karim Hamesch & Pavel Strnad

  3. Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Aachen, Germany

    Karim Hamesch & Pavel Strnad

Authors
  1. Vítor Magno Pereira
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  2. Karim Hamesch
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Corresponding author

Correspondence to Pavel Strnad .

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Editors and Affiliations

  1. Department of Medicine and Center for Alcohol Research and Liver Diseases, Salem Medical Center, University of Heidelberg, Heidelberg, Germany

    Sebastian Mueller

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Magno Pereira, V., Hamesch, K., Strnad, P. (2020). Liver Fibrosis Assessment in Adults with Alpha1-Antitrypsin Deficiency. In: Mueller, S. (eds) Liver Elastography. Springer, Cham. https://doi.org/10.1007/978-3-030-40542-7_17

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  • DOI: https://doi.org/10.1007/978-3-030-40542-7_17

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-40541-0

  • Online ISBN: 978-3-030-40542-7

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