Format

Send to

Choose Destination
Hepatology. 2017 Jul;66(1):286-288. doi: 10.1002/hep.29037. Epub 2017 May 9.

CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.

Author information

1
Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.
2
Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.
3
Department of Surgery, Medical University of Innsbruck, Innsbruck, Austria.
4
Department of Pathology, Medical University of Innsbruck, Innsbruck, Austria.
5
Center for Endoscopy Kessler & Sprenger, Feldkirch, Austria.
6
Department of Radiology, Medical University of Innsbruck, Innsbruck, Austria.

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).

PMID:
28073151
DOI:
10.1002/hep.29037
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center