title: Liver involvement in Gaucher disease - Review and clinical approach.
abstract: Gaucher disease (GD), one of the most prevalent lysosomal storage diseases, is associated with glucocerebroside accumulation in cells of the monocyte-macrophage system in various organs, including the liver. Evaluating and managing liver disease in patients with Gaucher disease may be challenging. While hepatic involvement is common in Gaucher disease, its severity, and clinical significance span a wide spectrum, ranging from sub-clinical involvement to liver cirrhosis with its associated complications including portal hypertension. Apart from liver involvement in Gaucher disease, patients with may also suffer from other comorbidities involving the liver. That Gaucher disease itself can mimic hepatic lesions, affect laboratory tests used to characterize liver disease, and may be associated with non-cirrhotic portal hypertension, complicates the diagnostic approach even more. Better understanding of liver involvement in Gaucher disease can spare patients unnecessary invasive testing, and assist physicians in decision making when evaluating patients with Gaucher disease suspected for significant liver disease. This review describes the various clinical manifestations, laboratory and imaging abnormalities that may be encountered when following patients with Gaucher disease for liver involvement. The mechanism for liver disease are discussed, as well as the possible hepato-protective effect of glucocerebroside, and the a diagnostic and treatment approaches.
authors.affiliation: Digestive Diseases Institute, Shaare Zedek Medical Center (SZMC), Hebrew University, Jerusalem, Israel. Electronic address: adartom@szmc.org.il.
authors.forename: Tomer
authors.initials: T
authors.lastname: Adar
authors.affiliation: Department of Medicine, Hebrew University-Hadassah Medical Center, Jerusalem, Israel.
authors.forename: Yaron
authors.initials: Y
authors.lastname: Ilan
authors.affiliation: Gaucher Clinic, Shaare Zedek Medical Center (SZMC), Hebrew University, Jerusalem, Israel.
authors.forename: Deborah
authors.initials: D
authors.lastname: Elstein
authors.affiliation: Gaucher Clinic, Shaare Zedek Medical Center (SZMC), Hebrew University, Jerusalem, Israel.
authors.forename: Ari
authors.initials: A
authors.lastname: Zimran
mesh_terms: D000818:Animals; D005776:Gaucher Disease / Q000097:blood / Q000150:complications* / Q000473:pathology* / Q000628:therapy; D005963:Glucosylceramides / Q000097:blood; D006801:Humans; D008099:Liver / Q000473:pathology*; D008107:Liver Diseases / Q000097:blood / Q000150:complications* / Q000473:pathology* / Q000628:therapy
chemical_list: D005963:Glucosylceramides
keywords: Gaucher disease; Liver disease