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

Francesca Carubbi, Maria Domenica Cappellini, Silvia Fargion, Anna Ludovica Fracanzani, Fabio Nascimbeni

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Pages (from-to)368-373
Number of pages6
JournalDigestive and Liver Disease
Issue number4
Publication statusPublished - Apr 2020


  • Diagnosis
  • Glucocerebrosidase deficiency
  • Liver disease
  • Splenomegaly

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology


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