血色病中的“混合搭配”——病例报告及肝脏相关文献综述
A "Mix and Match" in Hemochromatosis-A Case Report and Literature Focus on the Liver.
机构信息
Department of Rheumatology and Internal Medicine, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Department of Rheumatology and Internal Medicine, Sfânta Maria Clinical Hospital Bucharest, 011172 Bucharest, Romania.
出版信息
Medicina (Kaunas). 2023 Sep 1;59(9):1586. doi: 10.3390/medicina59091586.
Hemochromatosis is a genetic disorder characterized by increased iron storage in various organs with progressive multisystemic damage. Despite the reports dating back to 1865, the diagnosis of hemochromatosis poses a challenge to clinicians due to its non-specific symptoms and indolent course causing significant delay in disease recognition. The key organ that is affected by iron overload is the liver, suffering from fibrosis, cirrhosis or hepatocellular carcinoma, complications that can be prevented via early diagnosis and treatment. This review aims to draw attention to the pitfalls in diagnosing hemochromatosis. We present a case with multiorgan complaints, abnormal iron markers and a consistent genetic result. We then examine the relevant literature and discuss hemochromatosis subtypes and liver involvement, including transplant outcome and treatment options. In summary, hemochromatosis remains difficult to diagnose due to its symptom heterogeneity and rarity; thus, further education for practitioners of all disciplines is useful in facilitating its early recognition and management.
血色病是一种遗传性疾病,其特征是多种器官中铁储存增加,伴有进行性多系统损伤。尽管早在 1865 年就有报道,但由于其非特异性症状和惰性病程导致疾病识别显著延迟,血色病的诊断仍然对临床医生构成挑战。受铁过载影响的关键器官是肝脏,会遭受纤维化、肝硬化或肝细胞癌的影响,这些并发症可以通过早期诊断和治疗来预防。本综述旨在提请人们注意诊断血色病的陷阱。我们呈现了一个有多器官投诉、异常铁标记物和一致遗传结果的病例。然后,我们检查了相关文献,并讨论了血色病亚型和肝脏受累,包括移植结果和治疗选择。总之,由于其症状异质性和罕见性,血色病仍然难以诊断;因此,对所有学科的从业者进行进一步的教育有助于促进其早期识别和管理。
相似文献
Medicina (Kaunas). 2023-9-1
Hepatobiliary Pancreat Dis Int. 2011-6
Am Fam Physician. 2013-2-1
Z Rheumatol. 2015-9
Orv Hetil. 2004-9-26
W V Med J. 1990-3
Ann Intern Med. 1998-12-1
Rev Gastroenterol Peru. 2021
J Pediatr Hematol Oncol. 2017-8
引用本文的文献
Radiol Case Rep. 2024-4-19
本文引用的文献
Lancet. 2023-5-27
Eur J Haematol. 2023-5
Sci Bull (Beijing). 2021-9-15
Dig Dis Sci. 2023-1
J Hepatol. 2022-8
Exp Ther Med. 2022-5