What is the role of genetics in the etiology of primary biliary cholangitis (PBC)?

Updated: Nov 08, 2017
  • Author: Nikolaos T Pyrsopoulos, MD, PhD, MBA, FACP, AGAF; Chief Editor: BS Anand, MD  more...
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Primary biliary cholangitis is a disease of unknown etiology, but various factors have been implicated as the causes of this illness, such as the following:

  • Genetic factors: First-degree relatives have a 570- to 1000-fold increased chance of developing primary biliary cholangitis. The presence of an inherited abnormality of immune regulation has been proposed.

  • Infection with organisms of the family Enterobacteriaceae: Cross-reactivity between antigens on the bacterial wall and the mitochondria has been postulated. Patients with primary biliary cholangitis present with an increased incidence of gram-negative urinary tract infections.

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