[MIM 600 803]

Acronym for  Low Phospholipid Associated Cholestasis.

(Primitive cholelithiasis due to phospholipids deficiency)

Unknown prevalence because the diagnosis is often overlooked. Cholesterol lithiasis in the gallbladder or the  intrahepatic ducts . In 50 % of cases, autosomal dominant or recessive transmission of a mutation of the ABCB4 gene (7q21) coding for MDR3 protein. This protein excretes phopholipids in the biliary canalicule. This mutation leads to the production of a lithogenic bile. Other mutations of the same gene cause progressive familial intrahepatic cholestasis type 3 (see this term).

Treatment: ursodeoxycholic acid.

Anesthetic implications:

check liver function

References : 

Updated: December 2018