Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly

作者：Vom Dahl Stephan^*; Mengel Eugen

来源：Best Practice & Research in Clinical Gastroenterology, 2010, 24(5): 619-628.

DOI：10.1016/j.bpg.2010.09.001

• Gaucher disease
• Cholesterol ester storage disease
• Niemann-Pick disease
• Fabry disease
• Cirrhosis
• Hepatocellular carcinoma
• Cholestasis
• Acroparesthesia
• Renal failure
• Stroke
• Angiokeratoma

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 the

• 出版日期2010-10