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Alpha1-Antitrypsin Deficiency: A Cause of Chronic Liver Disease

Vignan Manne1, Kris V Kowdley2

  • 1Sunrise Health Consortium GME, 2880 North Tenaya Way, Las Vegas, NV 89128, USA.

Clinics in Liver Disease
|July 5, 2020
PubMed

Insights

Alpha1-antitrypsin deficiency (A1ATD) is an inherited liver disease caused by abnormal protein buildup in hepatocytes. Early recognition and monitoring are crucial for managing A1ATD liver disease, with liver transplant offering proven benefits.

Area of Science:

  • Hepatology
  • Genetics
  • Internal Medicine

Background:

  • Alpha1-antitrypsin deficiency (A1ATD) is an inherited disorder.
  • It is a leading genetic cause of chronic liver disease in adults and children.
  • A1ATD liver disease results from the accumulation of misfolded alpha1-antitrypsin protein polymers in liver cells (hepatocytes).

Purpose of the Study:

  • To review the pathophysiology, clinical presentation, and management of Alpha1-antitrypsin deficiency (A1ATD) liver disease.
  • To highlight the under-recognized nature of A1ATD and the importance of timely diagnosis.
  • To discuss current monitoring strategies and therapeutic options, including liver transplantation.

Main Methods:

  • Literature review of studies on Alpha1-antitrypsin deficiency and liver disease.
  • Analysis of genetic inheritance patterns and protein aggregation mechanisms.
  • Review of clinical outcomes and treatment efficacy in A1ATD patients.

Main Results:

  • A1ATD follows an autosomal codominant inheritance pattern.
  • Abnormal protein accumulation in hepatocytes leads to liver injury, fibrosis, and potentially cirrhosis.
  • The condition is frequently underdiagnosed, necessitating increased awareness and screening.
  • Regular patient monitoring is essential for early detection of liver complications.

Conclusions:

  • Alpha1-antitrypsin deficiency is a significant, often overlooked, cause of chronic liver disease.
  • Prompt diagnosis and consistent monitoring can improve patient outcomes.
  • Liver transplantation is a definitive treatment for end-stage liver disease due to A1ATD.

Keywords:
Alpha1-antitrypsinCirrhosisSERPINA1

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