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Pediatric and Adult Liver Disease in Alpha-1 Antitrypsin Deficiency

Mathias Ruiz1, Florence Lacaille2, Christina Schrader3

  • 1Hépatologie, Gastroentérologie et Nutrition Pédiatriques, Hôpital Femme Mère Enfant, Hospices civils de Lyon, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Lyon, France.

Seminars in Liver Disease
|July 4, 2023
PubMed

Insights

Alpha-1 antitrypsin deficiency (AATD) is a genetic liver disorder caused by SERPINA1 variants. RNA silencing shows promise as a therapeutic strategy for AATD liver disease in adults.

Area of Science:

  • Genetics and Hepatology: Focuses on inherited liver diseases and their molecular basis.

Background:

  • Alpha-1 antitrypsin deficiency (AATD) results from SERPINA1 gene variants, leading to hepatocellular protein misfolding and liver damage.
  • Severe AATD (Pi*ZZ genotype) causes neonatal cholestasis (2-10%) and adult liver fibrosis (20-35%), potentially leading to end-stage liver disease.
  • Heterozygous Pi*MZ genotype acts as a disease modifier in AATD-associated liver conditions.

Approach:

  • Review of the natural history and management strategies for pediatric and adult AATD liver disease.
  • Evaluation of emerging therapeutic options, including RNA silencing, based on clinical trial data.

Key Points:

  • AATD is an inherited disorder impacting liver function due to SERPINA1 variants.
  • Both pediatric and adult populations are affected, with varying risks of liver fibrosis and end-stage disease.
  • RNA silencing presents a potential novel therapeutic avenue for managing AATD liver disease.

Conclusions:

  • Alpha-1 antitrypsin deficiency is an increasingly recognized cause of liver disease in both children and adults.
  • Modern pharmacologic strategies, such as RNA silencing, are being explored for AATD treatment.

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