Chaudhry Hunza, Sohal Aalam, Petrosyan Arpine, Laput Gieric, Roytman Marina, Prajapati Devang
Department of Internal Medicine, University of California, San Francisco, Fresno, CA.
Department of Gastroenterology and Hepatology, University of California, San Francisco, Fresno, CA.
ACG Case Rep J. 2023 Jan 25;10(1):e00982. doi: 10.14309/crj.0000000000000982. eCollection 2023 Jan.
Hemochromatosis is a genetic disorder marked by abnormally high levels of intestinal iron absorption leading to severe end-organ damage. It is classically associated with HFE gene mutations, including C282Y and H63D, but in recent years, many non-HFE mutations along with novel variants have been discovered, particularly among non-Whites. We describe a case of an elderly Japanese patient who was evaluated for markedly elevated ferritin found to have hemochromatosis, with no hepatic fibrosis while being negative for HFE and common non-HFE gene mutations.
血色素沉着症是一种遗传性疾病，其特征是肠道铁吸收水平异常升高，导致严重的终末器官损伤。传统上，它与HFE基因突变有关，包括C282Y和H63D，但近年来，人们发现了许多非HFE突变以及新的变异，特别是在非白人中。我们描述了一例老年日本患者，该患者因铁蛋白显著升高接受评估，被发现患有血色素沉着症，无肝纤维化，且HFE和常见非HFE基因突变均为阴性。
