Patel Roshni
Internal Medicine, UT Southwestern Medical Center, Dallas, Texas, USA
BMJ Case Rep. 2019 Oct 25;12(10):e232449. doi: 10.1136/bcr-2019-232449.
A 32-year-old man with alcoholic cirrhosis presented with worsening abdominal distension and jaundice. He was diagnosed with cirrhosis 2 years prior after a hospitalisation for acute liver failure, during which viral, autoimmune and metabolic workup was unrevealing. Heavy alcohol consumption was his only obvious risk factor for liver disease, so his decompensation was attributed to alcohol. At the present time, he was admitted with acute-on-chronic liver failure and acute renal failure. The severity of his presentation and the disproportionately mild elevation in alkaline phosphatase relative to his hyperbilirubinaemia prompted repeating a ceruloplasmin level, which, though previously normal, was now low, and eventually led to a diagnosis of Wilson disease (WD) with concomitant alcoholic liver disease. Clinicians must recognise limitations in ceruloplasmin and copper levels when screening for WD and maintain suspicion for WD in young patients, even if there is an already established aetiology of liver disease.
一名32岁的酒精性肝硬化男性患者,出现腹胀和黄疸加重。他在因急性肝衰竭住院2年后被诊断为肝硬化,在此期间,病毒、自身免疫和代谢检查均未发现异常。大量饮酒是他唯一明显的肝病危险因素,因此他的失代偿归因于酒精。目前,他因慢加急性肝衰竭和急性肾衰竭入院。他临床表现的严重程度以及碱性磷酸酶相对于高胆红素血症的轻度升高,促使再次检测铜蓝蛋白水平,该水平虽之前正常,但现在降低,最终诊断为威尔逊病(WD)合并酒精性肝病。临床医生在筛查WD时必须认识到铜蓝蛋白和铜水平的局限性,对于年轻患者即使已有明确的肝病病因,也应保持对WD的怀疑。