title: Excessive bilirubin elevation in a patient with hereditary spherocytosis and intrahepatic cholestasis.
abstract: Hereditary spherocytosis is a common hemolytic anemia with an estimated incidence of 1 / 2500 births. It is caused by a molecular defect in one or more of the proteins of the red blood cell cytoskeleton. Mutations in the ABCB11 gene, encoding the bile salt export pump, can entail progressive familial intrahepatic cholestasis and benign recurred intrahepatic cholestasis. A 18 year old Turkish patient with hereditary spherocytosis was admitted to hospital with pruritus and severe jaundice. Ultrasound examination presented stones in gallbladder and bile duct. After endoscopic retrograde cholangiography with extraction of small bile duct stones abdominal pain resolved and liver enzymes normalized within a few days, but bilirubin and bile acids remained highly elevated. Liver biopsy revealed a severe canalicular cholestasis. Genetic analysis showed the compound heterozygous variants ABCB11 A 444V and 3084A > G. Treatment with ursodesoxycholic acid and intermittent therapy with prednisone reduced pruritus and jaundice with concomitant improvement of blood test. Here we report the first case of a patient with combined hereditary spherocytosis and compound heterozygous ABCB11 gene variants predisposing to intrahepatic cholestasis. Therefore, patients with hemolytic disorders should be investigated for bile acid transporter diseases in case of hyperbilirubinemia and severe cholestasis.
authors.affiliation: Dept. Gastroenterology and Hepatology, University Hospital Essen.
authors.forename: A
authors.initials: A
authors.lastname: Wree
authors.forename: A
authors.initials: A
authors.lastname: Canbay
authors.forename: H
authors.initials: H
authors.lastname: Müller-Beissenhirtz
authors.forename: A
authors.initials: A
authors.lastname: Dechêne
authors.forename: G
authors.initials: G
authors.lastname: Gerken
authors.forename: U
authors.initials: U
authors.lastname: Dührsen
authors.forename: F
authors.initials: F
authors.lastname: Lammert
authors.forename: H
authors.initials: H
authors.lastname: Nückel
mesh_terms: D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000293:Adolescent; D000483:Alleles; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D001647:Bile Acids and Salts / Q000097:blood; D001663:Bilirubin / Q000097:blood*; D001706:Biopsy; D002780:Cholestasis, Intrahepatic / Q000097:blood* / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D042882:Gallstones / Q000097:blood / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D006580:Genetic Carrier Screening; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D011241:Prednisone / Q000627:therapeutic use; D020033:Protein Isoforms / Q000235:genetics; D013103:Spherocytosis, Hereditary / Q000097:blood* / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology
chemical_list: C093491:ABCB11 protein, human; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters; D000893:Anti-Inflammatory Agents; D001647:Bile Acids and Salts; D020033:Protein Isoforms; D001663:Bilirubin; D011241:Prednisone