Department of Internal Medicine, division of Endocrinology & Metabolism, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
Department of Pathology, Academic Medical Center, Amsterdam, The Netherlands.
J Inherit Metab Dis. 2018 Sep;41(5):819-827. doi: 10.1007/s10545-018-0142-y. Epub 2018 Feb 8.
Gaucher disease (GD) is associated with an increased risk for malignancies. Next to hematological malignancies, the development of solid tumors in several organs has been described. The liver is one of the major storage sites involved in GD pathogenesis, and is also affected by liver-specific complications. In this case series, we describe 16 GD type 1 (GD1) patients from eight different referral centers around the world who developed hepatocellular carcinoma (HCC). Potential factors contributing to the increased HCC risk in GD patients are studied. Eleven patients had undergone a splenectomy in the past. Liver cirrhosis, one of the main risk factors for the development of HCC, was present in nine out of 14 patients for whom data was available. Three out of seven examined patients showed a transferrin saturation > 45%. In these three patients the presence of iron overload after histopathological examination of the liver was shown. Chronic hepatitis C infection was present in three of 14 examined cases. We summarized all findings and made a comparison to the literature. We recommend that GD patients, especially those with prior splenectomy or iron overload, be evaluated for signs of liver fibrosis and if found to be monitored for HCC development.
戈谢病（GD）与恶性肿瘤风险增加相关。除了血液系统恶性肿瘤外，还描述了几种器官的实体瘤的发展。肝脏是 GD 发病机制中涉及的主要储存部位之一，也受肝脏特异性并发症的影响。在本病例系列中，我们描述了来自世界各地八个不同转诊中心的 16 名戈谢病 1 型（GD1）患者，他们患有肝细胞癌（HCC）。研究了导致 GD 患者 HCC 风险增加的潜在因素。11 名患者过去曾接受过脾切除术。对于 14 名可获得数据的患者中的 9 名，存在导致 HCC 发展的主要危险因素之一的肝硬化。在 7 名接受检查的患者中，有 3 名转铁蛋白饱和度＞45%。在这 3 名患者中，通过对肝脏进行组织病理学检查显示存在铁过载。在 14 例检查的病例中，有 3 例存在丙型肝炎慢性感染。我们总结了所有的发现，并与文献进行了比较。我们建议 GD 患者，特别是那些有脾切除术或铁过载史的患者，评估肝脏纤维化的迹象，如果发现有迹象，应监测 HCC 的发展。
