title: LPAC syndrome associated with deletion of the full exon 4 in a ABCB4 genetic mutation in a patient with hepatitis C.
abstract: Low-phospholipid-associated cholelithiasis syndrome (LPAC) is associated with ABCB4 genetic mutation. ABCB4 encodes MDR3 protein, involved in biliary phosphatidylcholine excretion.Higher prevalence in women, biliary symptoms in young adults and ursodesoxycholic acid (UDCA) response are the main features. We report the case of a 48-year-old man with hepatitis C, genotype 1b, fibrosis F3, null responder to Peg-IFN-alpha-2b/ribavirin and nephritic colic. In 2011 he developed jaundice, pruritus and epigastric pain.He showed increased serum levels of AST, ALT, GGT, bilirubin and alpha-fetoprotein, and viral load (14,600,000 IU/mL). Pancreatic- CT, endoscopic ultrasonography and echo-Doppler showed noncirrhotic chronic liver disease. The episode resolved spontaneously and one year later he suffered a similar episode. UDCA was started with excellent response. An immunohistochemistry study and sequencing of ABCB4 did not find alteration. MLPA® technique detected heterozygous deletion of the full exon 4 confirming LPAC syndrome diagnosis.
authors.forename: Blanca
authors.initials: B
authors.lastname: Fombuena
authors.forename: Javier
authors.initials: J
authors.lastname: Ampuero
authors.forename: Luis
authors.initials: L
authors.lastname: Álvarez
authors.forename: Reyes
authors.initials: R
authors.lastname: Aparcero
authors.forename: Rocío
authors.initials: R
authors.lastname: Llorca
authors.forename: Raquel
authors.initials: R
authors.lastname: Millán
authors.forename: Helena
authors.initials: H
authors.lastname: Pastor
authors.forename: Sara
authors.initials: S
authors.lastname: Andueza
authors.forename: Veronique
authors.initials: V
authors.lastname: Barbu
authors.forename: Manuel
authors.initials: M
authors.lastname: Romero-Gómez
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000235:genetics*; D002780:Cholestasis, Intrahepatic / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006526:Hepatitis C / Q000150:complications* / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010743:Phospholipids / Q000172:deficiency; D013577:Syndrome
chemical_list: D018435:ATP Binding Cassette Transporter, Subfamily B; D010743:Phospholipids; C095122:multidrug resistance protein 3