Regional Referral Centre for Lysosomal Storage Diseases, Division of Internal Medicine and Metabolism, Civil Hospital, AOU of Modena, University of Modena and Reggio Emilia, Modena, Italy.
Rare Diseases Center, Department of Medicine, "Ca' Granda" Foundation IRCCS, Policlinico Hospital, Milan, Italy; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
Dig Liver Dis. 2020 Apr;52(4):368-373. doi: 10.1016/j.dld.2020.01.004. Epub 2020 Feb 11.
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.
戈谢病（GD）是一种罕见的溶酶体贮积病，由葡萄糖脑苷脂酶活性缺陷导致糖脂在单核吞噬细胞系统中蓄积引起，如果未经诊断和治疗，可能会发展为致残和潜在致命的并发症。不幸的是，由于非特异性的症状和体征以及缺乏认识，1 型 GD（最常见的非神经病变变异型）患者经常出现诊断延迟。由于脾肿大和血小板减少症是导致许多 GD 患者首次就诊的主要临床特征，因此肝病学家和胃肠病学家需要了解这种情况。肝受累在大多数 GD 患者中均有报道，包括肝肿大，伴或不伴肝酶改变、纤维化/肝硬化、门静脉高压、局灶性肝脏病变和胆石症。此外，GD 与一些对肝病学家和胃肠病学家具有潜在重要意义的生化改变有关，包括高丙种球蛋白血症、高血铁蛋白血症和代谢异常，这些改变可能导致误诊为常见病因的慢性肝病，如原发性血色病、自身免疫性肝病或非酒精性脂肪性肝病。基于管理 GD 患者的医生的合作经验，本综述提供了有关 GD 的临床、组织学和影像学肝脏表现的实用信息，旨在为肝病学家和胃肠病学家诊断 GD 提供便利。
