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CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema‐cholestasis syndrome
Author(s) -
Viveiros André,
Reiterer Marion,
Schaefer Benedikt,
Finkenstedt Armin,
Schneeberger Stefan,
Schwaighofer Hubert,
Moser Patrizia,
Sprenger Rudolf,
Glodny Bernhard,
Vogel Wolfgang,
Janecke Andreas R.,
Zoller Heinz
Publication year - 2017
Publication title -
hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.488
H-Index - 361
eISSN - 1527-3350
pISSN - 0270-9139
DOI - 10.1002/hep.29037
Subject(s) - lymphedema , cholestasis , medicine , primary sclerosing cholangitis , gastroenterology , lymphatic system , bile duct , loss of heterozygosity , protein losing enteropathy , broad spectrum , enteropathy , pathology , biology , cancer , disease , gene , genetics , breast cancer , allele , chemistry , combinatorial chemistry
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. (H epatology 2017;66:286–288).