Genetic Testing in Liver Disease: What to Order, in Whom, and When

Clin Liver Dis. 2017 Nov;21(4):673-686. doi: 10.1016/j.cld.2017.06.001. Epub 2017 Jul 29.

Abstract

Genetic causes of liver disease lead to a wide range of presentations, from mildly abnormal liver tests to acute liver failure. This article discusses the indications for testing and what to test for hereditary hemochromatosis, progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, lysosomal acid lipase deficiency, Gilbert syndrome, alpha-1 antitrypsin deficiency, and Wilson disease.

Keywords: Alpha-1 antitrypsin deficiency; Benign recurrent intrahepatic cholestasis; Genetic testing; Gilbert syndrome; Hemochromatosis; Lysosomal acid lipase deficiency; Progressive familial intrahepatic cholestasis; Wilson disease.

Publication types

  • Review

MeSH terms

  • Cholestasis, Intrahepatic / diagnosis
  • Cholestasis, Intrahepatic / genetics
  • Genetic Testing / methods*
  • Gilbert Disease / diagnosis
  • Gilbert Disease / genetics
  • Hemochromatosis / diagnosis
  • Hemochromatosis / genetics
  • Hepatolenticular Degeneration / diagnosis
  • Hepatolenticular Degeneration / genetics
  • Humans
  • Liver Diseases / diagnosis
  • Liver Diseases / genetics*
  • Patient Selection
  • Wolman Disease / diagnosis
  • Wolman Disease / genetics
  • alpha 1-Antitrypsin Deficiency / diagnosis
  • alpha 1-Antitrypsin Deficiency / genetics

Supplementary concepts

  • Cholestasis, progressive familial intrahepatic 1
  • Cholestasis, progressive familial intrahepatic 2