Costa Ana Rita Gonçalves, Freitas Inês, Raposo Joana, Barbosa Gustavo, Miranda Helena P, Nery Filipe
Serviço de Medicina Interna, Centro Hospitalar Universitário do Porto, Porto, Portugal.
Serviço de Hematologia Laboratorial, Centro Hospitalar Universitário do Porto, Porto, Portugal.
GE Port J Gastroenterol. 2020 Dec;28(1):62-66. doi: 10.1159/000507335. Epub 2020 May 27.
Acute liver failure (ALF) is a rare entity, particularly in the context of Budd-Chiari syndrome (BCS). BCS is an uncommon disorder with multiple risk factors, most commonly myeloproliferative disorders. In BCS, active search and exclusion of underlying malignancy is mandatory, particularly in the context of ALF, as it may contraindicate liver transplantation (LT). We present the case of a healthy 29-year-old male, without known risk factors for liver disease, who presented to the emergency department with abdominal pain, ascites, and jaundice. BCS with consequent severe acute liver injury with rapid progression to ALF was diagnosed. The patient was listed for LT. The study of peripheral blood finally revealed myeloid blasts, and flow cytometry showed a population of blast cells with abnormal immunophenotypic profile (CD33+ and myeloperoxidase, MPO+). The bone marrow biopsy showed morphological and immunophenotypic aspects of acute myeloid leukaemia (AML) FAB M1. This diagnosis was considered a formal contraindication to LT, so the patient was delisted. ALF contraindicated rescue chemotherapy and AML contraindicated LT. The patient died 48 h after ICU admission. The search for underlying neoplasia is mandatory in the context of BCS, moreover with associated ALF, as it may limit lifesaving treatments and interventions to supportive and palliative care.
急性肝衰竭(ALF)是一种罕见的病症,尤其是在布加综合征(BCS)的背景下。BCS是一种具有多种危险因素的罕见疾病,最常见的是骨髓增殖性疾病。在BCS中,积极寻找并排除潜在的恶性肿瘤是必要的,特别是在ALF的情况下,因为这可能会成为肝移植(LT)的禁忌证。我们报告了一例29岁健康男性病例,该患者无已知的肝脏疾病危险因素,因腹痛、腹水和黄疸就诊于急诊科。诊断为BCS继发严重急性肝损伤并迅速进展为ALF。该患者被列入肝移植名单。外周血检查最终发现髓系原始细胞,流式细胞术显示一群原始细胞具有异常免疫表型特征(CD33+和髓过氧化物酶,MPO+)。骨髓活检显示急性髓系白血病(AML)FAB M1的形态学和免疫表型特征。这一诊断被认为是肝移植的正式禁忌证,因此该患者被从肝移植名单中除名。ALF是抢救化疗的禁忌证,而AML是肝移植的禁忌证。该患者在入住重症监护病房48小时后死亡。在BCS的情况下,尤其是伴有ALF时,寻找潜在的肿瘤是必要的,因为这可能会将挽救生命的治疗和干预措施限制在支持性和姑息性治疗。