Liver involvement in Gaucher disease: A practical review for the hepatologist and the gastroenterologist

Gaucher disease (GD), a rare lysosomal storage disorder caused by deficient glucocerebrosidase activity and consequent accumulation of glycosphingolipids in the mononuclear phagocyte system, may progress to disabling and potentially life-threatening complications when left undiagnosed and untreated. Unfortunately, because of non-specific signs and symptoms and lack of awareness, patients with type 1 GD, the most common non-neuropathic variant, frequently experience diagnostic delays. Since splenomegaly and thrombocytopenia are the dominant clinical features in many GD patients leading to first medical contact, the hepatologist and the gastroenterologist need to be aware of this condition.
Source: Digestive and Liver Disease - Category: Gastroenterology Authors: Tags: Review Article Source Type: research

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Source: Current Opinion in Gastroenterology - Category: Gastroenterology Tags: LIVER: Edited by Don C. Rockey Source Type: research
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Source: Current Opinion in Gastroenterology - Category: Gastroenterology Tags: LIVER: Edited by Don C. Rockey Source Type: research
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