title: Imaging characteristics of focal splenic and hepatic lesions in type 1 Gaucher disease.
abstract: In Gaucher disease (GD) imaging of liver and spleen is part of routine follow-up of GD patients. Focal lesions in both liver and spleen are frequently reported at radiological examinations. These lesions often represent benign accumulations of Gaucher cells, so-called "gaucheroma", but malignancies, especially hepatocellular carcinoma, are more frequently found in GD as well. We report the imaging characteristics of all focal lesions in liver and spleen in the Dutch GD cohort. Of the 95 GD1 patients, 40% had focal splenic and/or hepatic lesions, associated with more severe GD. Lesions identified as gaucheroma have variable imaging characteristics: hyper- to hypointense on MRI, hyper- or hypoechoic on US and hypodense on computed tomography (CT). Hepatic lesions were classified as simple cysts or haemangioma based upon imaging characteristics. Focal nodular hyperplasia (FNH), gaucheroma and hepatocellular carcinoma (HCC) could not be distinguished by conventional US, CT or MRI. Growth of these lesions and/or characteristics of HCC on dynamic CT or MRI and pathology was used to identify or rule out HCC. We propose a decision-making algorithm including the use of growth and dynamic CT- or MRI-scanning to characterize lesions.
authors: Department of Radiology, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands; Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.
authors: Martine
authors: M
authors: Regenboog
authors: Department of Radiology, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.
authors: Anneloes E
authors: AE
authors: Bohte
authors: Department of Radiology, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.
authors: Inne
authors: I
authors: Somers
authors: Department of Radiology, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.
authors: Otto M
authors: OM
authors: van Delden
authors: Department of Radiology, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.
authors: Mario
authors: M
authors: Maas
authors: Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: c.e.hollak@amc.nl.
authors: Carla E M
authors: CE
authors: Hollak
mesh_terms: D000465:Algorithms; D006528:Carcinoma, Hepatocellular / Q000000981:diagnostic imaging; D003658:Decision Making, Computer-Assisted; D003952:Diagnostic Imaging / Q000379:methods*; D020518:Focal Nodular Hyperplasia / Q000000981:diagnostic imaging; D005776:Gaucher Disease / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology*; D008113:Liver Neoplasms / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D013154:Spleen / Q000473:pathology*; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography
keywords: Follow-up; Gaucher disease; Gaucheroma; Hepatocellular carcinoma; Imaging