Graduate Studies, Liaoning University of Traditional Chinese Medicine, Shenyang, China.
Department of Gastroenterology, Affiliated Hospital of Liaoning University of Traditional Chinese Medicine, Shenyang, China.
Diagn Pathol. 2022 Jul 4;17(1):57. doi: 10.1186/s13000-022-01228-1.
Vanishing bile duct syndrome (VBDS) is a rare but potentially severe acquired chronic cholestatic liver disease. Bile duct deficiency is a reduction of bile ducts in the liver, which can eventually lead to cholestatic liver disease and progress to biliary cirrhosis. Primary biliary cholangitis (PBC) is one of the causes of bile duct deficiency. In addition, 75% of PBC patients may have dyslipidemia, and in case of secondary dyslipidemia, cutaneous xanthomas may occur. A 49-year-old woman was admitted with jaundice and multiple subcutaneous nodules. She received diagnosis of autoimmune liver disease 2 years before. Although she was treated with liver-protecting drugs, such as Essentiale and ursodeoxycholic acid, jaundice occurred repeatedly, and the color of her skin was becoming darker and more yellow.
This case highlights that the positivity of ANA that in PBC have a well diagnostic and prognostic significance and antinuclear antibodies giving the 'multiple nuclear dots' or the 'rim-like/membranous' pattern scan ca diagnose primary biliary cirrhosis accurately. Since the liver biopsy of PBC alone may not be sufficient to establish the diagnosis, serum antibodies should also be examined. PBC can also lead to intrahepatic cholestasis, which can cause dyslipidemia and cutaneous xanthomas.
先天性肝外胆管消失综合征（VBDS）是一种罕见但潜在严重的获得性慢性胆汁淤积性肝病。胆管缺陷是肝脏内胆管数量减少，最终可导致胆汁淤积性肝病并进展为胆汁性肝硬化。原发性胆汁性胆管炎（PBC）是胆管缺陷的原因之一。此外，75%的 PBC 患者可能存在血脂异常，在继发性血脂异常的情况下，可能会出现皮肤黄色瘤。一名 49 岁女性因黄疸和多个皮下结节入院。她在 2 年前被诊断为自身免疫性肝病。尽管她接受了护肝药物治疗，如易善复和熊去氧胆酸，但黄疸反复发作，皮肤颜色变得越来越黑和黄。
本病例强调了 PBC 中 ANA 的阳性具有良好的诊断和预后意义，核抗体呈“多核点”或“边缘状/膜状”模式扫描有助于准确诊断原发性胆汁性胆管炎。由于单独进行 PBC 肝活检可能不足以确立诊断，还应检查血清抗体。PBC 还可导致肝内胆汁淤积，从而导致血脂异常和皮肤黄色瘤。
