Table 1.

Disease variants associated with the ABCB4 molecule.

Disease	Phenotype	Treatment
Progressive Familial Intrahepatic Cholestasis (PFIC) Type 3	Progressive cholestasis with high GGTP. Late development of hepatic inflammation and biliary cirrhosis leading to portal hypertension. Increased AST/ALT and serum bile acids with normal cholesterol and biliary bile acids.	UDCA Liver Transplantation
Cholelithiasis	LPAC Syndrome: onset of cholesterol gallstones and intrahepatic microlithiasis and recurrent biliary symptoms despite cholecystectomy at age < 40 years. Intrahepatic brown pigment stones with difficult to treat cholangitis.	UDCA Future therapies may include FXR ligands and agonists and benzfibrates.
Intrahepatic Cholestasis of Pregnancy	Third trimester pruritis. Jaundice is rare. +/− Steatorrhea. Raised serum bile acids. Increased risk of fetal prematurity and stillbirths. Symptom resolution after delivery.	Delivery of baby. UDCA +/− UDCA with SAM

Abbreviations: UDCA, Ursodeoxycholic Acid; FXR, Farnesoid X Receptor; SAM, S-adenosylmethionine