J Gastrointestin Liver Dis, March 2023 Vol. 32 No 1: 86-91 1) 2 nd Department of Internal Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca; 2) Pulmonology Department, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania Address for correspondence: Chis Bogdan Augustin, Str. V.Babes nr. 8, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania bogdan_a_chis@yahoo.com Received: 30.11.2022 Accepted: 15.02.2023 Hepatic, Splenic, and Bone Marrow Gaucheromas: A Case Series and Systematic Literature Review Bogdan Augustin Chis 1 , Abdulrahman Ismaiel 1 , Ana-Florica Chis 2 INTRODUCTION Gaucher disease (GD) is a rare inherited autosomal recessive disease. It is the most common lysosomal storage disease in the group of sphingolipidoses. Tese diseases are characterized by a dysfunction in degrading pathways of diferent metabolites with secondary accumulation in different organs. Gaucher disease was first described by Philippe Gaucher in 1882 when his work was focusing on spleen enlargement. His PhD thesis “De l‘epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie” first SYSTEMATIC REVIEW DOI: http://dx.doi.org/10.15403/jgld-4752 ABSTRACT Background & Aims: Gaucher disease (GD) is one of the most common lysosomal storage diseases. It is characterized by the accumulation of glucocerebroside lipids in the macrophages, with liver, spleen and bone marrow frequently afected. Te afected organs can develop tumor-like lesions (Gaucheromas), which are difcult to diagnose. We present the Gaucheromas and their ultrasonographic characteristics. Methods: We selected Gaucheromas and their ultrasonographic characteristics found in the last 5 years during the periodical evaluation of 74 adult GD patients in Romania. All the patients had magnetic resonance imaging examination for comparison. A systematic review of all the Gaucheroma-related articles was performed to compare our results with the literature. Results: Gaucheromas were found in 7 adult patients: 4 in the spleen, 2 in the liver and one afecting the bone. No malignancy ultrasound characteristics were found and neither on MRI exams. In the literature, 10 articles reported Gaucheromas, most of them in the liver and spleen in type 1 GD patients. All our patients were also type 1 GD, and the ultrasound aspect did not change during the 5 years follow-up. Conclusions: Gaucheromas can be found in any patient with GD. Malignancies have to be considered unless proven otherwise. Imaging characterization (ultrasound and MRI) are useful as histopathologic examination is difcult to obtain in all cases. Key words: Gaucher disease – Gaucheroma – ultrasound – splenic – hepatic – bone marrow. Abbreviations: ERT: enzyme replacing therapies; GD: Gaucher disease; MRI: magnetic resonance imaging; SRT: substrate reducing therapies. considered the enlargement of the spleen as non-malignant. Only in 1965 the specifc pathways were understood and described by Brady et al [1]. With over 300 mutations of the glucocerebrosidase gene- GBA1, located on 1q21, the consequence is the accumulation of glucocerebroside lipids in the macrophages [2]. Symptoms are strongly associated with lipids accumulation in the organs. Te most involved sites are the liver, spleen, bone marrow and nervous system. Although its large genotype that includes several variations, only three phenotypes have been described. Te frst is the most common, GD type 1- non neuropathic form, with low glucocerebrosidase activity, in which liver, spleen and bone marrow are mostly afected and the nervous system is rarely involved. The other 2 neuropathic forms are rarer: GD type 2 afecting the infants with very low enzymatic activity, high child mortality and severe neurological symptoms and GD type 3, similar to type 2 but with later onset (childhood or young adult) with better overall survival [3].