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Low phospholipid-associated cholelithiasis syndrome (LPAC)
3 Ultrasound 1 Clinical case E Gallbladder and Biliary tree F Liver emmanuel rassiat, low phospholipid-associated cholelithiasis syndrome, lpac, abcb4 mutations
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Author: Emmanuel RASSIAT Dijon, Burgundy-Franche-Comté, France
A 32-year-old woman, who previously underwent a cholecystectomy (gallbladder removal), is affected by intrahepatic lithiasis, with multiple visible stones displaying shadow cones on imaging.
She has ABCB4 heterozygosity.
Heterozygous mutations in the ABCB4 gene are linked to various liver conditions, including intrahepatic cholestasis of pregnancy (ICP) and progressive familial intrahepatic cholestasis type 3 (PFIC3). This gene encodes the MDR3 protein, which is essential for transporting phosphatidylcholine in bile. When mutated, bile becomes more toxic to the bile ducts, leading to liver damage.
In adults, ABCB4 mutations can present with different phenotypes, such as low phospholipid-associated cholelithiasis syndrome (LPAC), drug-induced cholestasis, and, in severe cases, may even necessitate a liver transplant. Some studies have identified new pathogenic ABCB4 variants, suggesting that early diagnosis and treatment with ursodeoxycholic acid (UDCA) can improve prognosis.
