Delayed Diagnosis of Low Phospholipid-Associated Cholelithiasis Syndrome, Consideration of DHCR7 Mutations

Low phospholipid associated cholelithiasis (LPAC) syndrome is a rare genetic condition caused by mutations in proteins related to bile transport, most commonly heterozygous variants of ATP binding cassette subfamily B member 4 encoding canalicular phospholipid transporter multidrug resistance protein 3. While LPAC responds well to ursodeoxycholic acid treatment, delayed diagnosis can lead to severe complications requiring endoscopic and surgical intervention. We present a middle-aged woman who was ATP binding cassette subfamily B member 4 negative but positive for a likely pathogenic heterozygous DHCR7 variant, with delayed diagnosis of LPAC after multiple biliary complications, ultimately requiring hepatectomy.