Bile Transport Mechanisms and Disorders

Bile Formation and Transport

The American Gastroenterological Association notes that genetic defects in bile transporters can lead to various cholestatic disorders, including Progressive Familial Intrahepatic Cholestasis (PFIC) 1, 2
The European Association for the Study of the Liver states that PFIC includes PFIC1 (FIC1 deficiency): mutations in ATP8B1 gene, PFIC2 (BSEP deficiency): mutations in ABCB11 gene, and PFIC3 (MDR3 deficiency): mutations in ABCB4 gene 2
The National Institute of Diabetes and Digestive and Kidney Diseases reports that bile acid synthesis disorders can result from defects in enzymes involved in bile acid production 2
The American Association for the Study of Liver Diseases notes that drug-induced cholestasis can occur through inhibition of hepatocellular transporter expression/function or through inflammatory reactions at the bile ductular level 3

The European Association for the Study of the Liver recommends that disruptions in bile formation and flow can lead to cholestasis, jaundice, pruritus, and liver damage 4, 5
The American Gastroenterological Association states that Ursodeoxycholic acid (UDCA) is commonly used to treat various cholestatic conditions by changing bile composition from hydrophobic to more hydrophilic 6
The National Institute of Diabetes and Digestive and Kidney Diseases notes that primary bile acid replacement therapy is effective for bile acid synthesis disorders 4, 5