Abstract
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. Liver
involvement has been reported in the majority of GD patients, and comprises hepatomegaly,
with or without liver enzymes alteration, fibrosis/cirrhosis, portal hypertension,
focal liver lesions, and cholelithiasis. Moreover, GD is associated with several biochemical
alterations of potential interest for the hepatologist and the gastroenterologist,
including hypergammaglobulinemia, hyperferritinemia and metabolic abnormalities, that
may lead to misdiagnoses with chronic liver diseases of common etiology, such as primary
hemochromatosis, autoimmune liver diseases or nonalcoholic fatty liver disease. This
comprehensive review, based on the collaborative experience of physicians managing
patients with GD, provides practical information on the clinical, histological and
radiological hepatic manifestations of GD aiming at facilitating the diagnosis of
GD for the hepatologist and the gastroenterologist.
Keywords
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Article info
Publication history
Published online: February 11, 2020
Accepted:
January 12,
2020
Received:
October 27,
2019
Identification
Copyright
© 2020 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.
