Department of Surgery, Division of Hepato-Pancreato-Biliary Surgery and Liver Transplantation, University Medical Centre Groningen, Groningen, The Netherlands
Department of Surgery, Division of Hepato-Pancreato-Biliary Surgery and Liver Transplantation, University Medical Centre Groningen, Groningen, The Netherlands.
BMJ Case Rep. 2021 Mar 3;14(3):e240077. doi: 10.1136/bcr-2020-240077.
Alpha-1 antitrypsin (AAT) deficiency, which is an under-recognised metabolic genetic disorder, is known to cause severe lung disease and liver cirrhosis in about 10%-15% of cases. Patients with AAT deficiency are at a higher risk for developing hepatocellular carcinoma, both in cirrhotic and in non-cirrhotic livers. In this case report, a 48-year-old woman with homozygous ZZ AAT deficiency presented with abdominal pain, and by imaging, an abnormal area in the liver was found. The initial differential diagnosis consisted of benign abnormalities but a malignancy could not be ruled out. Finally, this abnormality turned out to be an intrahepatic cholangiocarcinoma (iCCA) in a non-cirrhotic liver. Since this type of tumour has been very infrequently described to be associated with AAT deficiency, the question remains whether alpha-1 trypsin accumulation in the hepatocytes was responsible for the development of iCCA. However, other associated factors for developing an iCCA were ruled out.
α1-抗胰蛋白酶（AAT）缺乏症是一种未被充分认识的代谢性遗传疾病，约有 10%-15%的病例会导致严重的肺部疾病和肝硬化。AAT 缺乏症患者在肝硬化和非肝硬化肝脏中均存在发生肝细胞癌的更高风险。在本病例报告中，一名 48 岁的女性患者存在纯合子 ZZ AAT 缺乏症，表现为腹痛，通过影像学检查发现肝脏存在异常区域。最初的鉴别诊断包括良性异常，但不能排除恶性肿瘤。最终，该异常被证实为非肝硬化肝脏中的肝内胆管癌（iCCA）。由于这种类型的肿瘤与 AAT 缺乏症的相关性非常罕见，因此仍存在疑问，即肝细胞中α1 胰蛋白酶的积累是否导致了 iCCA 的发生。然而，已经排除了发生 iCCA 的其他相关因素。
