Universität zu Köln

Vom Dahl, Stephan and Mengel, Eugen (2010). Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly. Best Pract. Res. Clin. Gastroenterol., 24 (5). S. 619 - 629. OXFORD: ELSEVIER SCI LTD. ISSN 1532-1916

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Abstract

In adults elevated transaminases and hepatomegaly often mild with moderate to massive idiopathic splenomegaly might hint to a lysosomal storage disease (LSD) In most of these cases hepatosplenomegaly does not eventually lead to cirrhosis hepatocellular carcinoma or cholestasis Nevertheless the hepatic clinical findings might be the incentive for the patient to present at the physician s office Many of the currently known > 50 lysosomal storage diseases might manifest in liver out of these the most important ones in adults are Gaucher disease cholesterol ester storage disease (CESD) and the Niemann-Pick diseases An increase of plasma chitotriosidase [1-4] should alert the physician for the presence of an LSD For Gaucher s disease enzyme supplementation and substrate deprivation constitute effective therapeutic options Fabry s disease the most prevalent lysosomal storage disease does usually not affect the liver but causes painful episodes of hands or feet pain (acroparesthesias) left ventricular hypertrophy renal failure early stroke and decreased life expectancy The emerging advent of effective therapeutic options and the cumulative prevalence of lysosomal storage diseases urge the hepatologist to add these diagnostic pathways to the clinical repertoire (C) 2010 Elsevier Ltd All rights reserved

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Vom Dahl, Stephan UNSPECIFIED UNSPECIFIED UNSPECIFIED Mengel, Eugen UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-495137
DOI:	10.1016/j.bpg.2010.09.001
Journal or Publication Title:	Best Pract. Res. Clin. Gastroenterol.
Volume:	24
Number:	5
Page Range:	S. 619 - 629
Date:	2010
Publisher:	ELSEVIER SCI LTD
Place of Publication:	OXFORD
ISSN:	1532-1916
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ENZYME REPLACEMENT THERAPY; PLASMA CHITOTRIOSIDASE ACTIVITY; NIEMANN-PICK-DISEASE; AGALSIDASE-BETA THERAPY; GAUCHER-DISEASE; ACID SPHINGOMYELINASE; N-BUTYLDEOXYNOJIRIMYCIN; ALPHA-GALACTOSIDASE; FABRY-DISEASE; MOUSE MODEL Multiple languages Gastroenterology & Hepatology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/49513