title: CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.
abstract: A 52-year old patient presented with lymphedema, protein loosing enteropathy, and sclerosing cholangitis and was diagnosed with lymphedema cholestasis syndrome (LCS). Cholangioscopy revealed dilated lymphatic vessels obstructing the bile duct and compound heterozygosity for collagen and calcium-binding epidermal growth factor domain-containing protein 1 (CCBE1) mutations was identified defining a novel type of LCS. (Hepatology 2017;66:286-288).
authors.affiliation: Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: André
authors.initials: A
authors.lastname: Viveiros
authors.affiliation: Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Marion
authors.initials: M
authors.lastname: Reiterer
authors.affiliation: Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Benedikt
authors.initials: B
authors.lastname: Schaefer
authors.affiliation: Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Armin
authors.initials: A
authors.lastname: Finkenstedt
authors.affiliation: Department of Surgery, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Stefan
authors.initials: S
authors.lastname: Schneeberger
authors.affiliation: Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Hubert
authors.initials: H
authors.lastname: Schwaighofer
authors.affiliation: Department of Pathology, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Moser
authors.affiliation: Center for Endoscopy Kessler & Sprenger, Feldkirch, Austria.
authors.forename: Rudolf
authors.initials: R
authors.lastname: Sprenger
authors.affiliation: Department of Radiology, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Bernhard
authors.initials: B
authors.lastname: Glodny
authors.affiliation: Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Vogel
authors.affiliation: Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Andreas R
authors.initials: AR
authors.lastname: Janecke
authors.affiliation: Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Heinz
authors.initials: H
authors.lastname: Zoller
mesh_terms: D001707:Biopsy, Needle; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002758:Cholangiography / Q000379:methods; D015209:Cholangitis, Sclerosing / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D002779:Cholestasis / Q000000981:diagnostic imaging* / Q000628:therapy; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D008209:Lymphedema / Q000000981:diagnostic imaging* / Q000628:therapy; D008279:Magnetic Resonance Imaging / Q000379:methods; D008875:Middle Aged; D009154:Mutation; D035583:Rare Diseases; D012008:Recurrence; D012720:Severity of Illness Index; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C546964:CCBE1 protein, human; D002135:Calcium-Binding Proteins; D025521:Tumor Suppressor Proteins