Plessier Aurélie, Valla Dominique-Charles
Service d'Hépatologie, Hôpital Beaujon, Clichy, France.
Semin Liver Dis. 2008 Aug;28(3):259-69. doi: 10.1055/s-0028-1085094. Epub 2008 Sep 23.
Primary Budd-Chiari syndrome is related to thrombosis of hepatic veins or the terminal portion of the inferior vena cava. This rare disease is usually caused by multiple concurrent factors, including acquired and inherited thrombophilias. Half of the patients with primary Budd-Chiari syndrome are affected with a myeloproliferative disease, the recognition of which is largely based on the assessment of V617F Janus tyrosine kinase 2 (JAK2) mutation in peripheral granulocytes. A diagnosis of Budd-Chiari syndrome should be considered in any patient presenting with acute or chronic liver disease, as clinical manifestations are extremely diverse. Spontaneous outcome in symptomatic patients is poor. Diagnosis can be made in most patients noninvasively when imaging shows venous obstruction and/or collaterals. A treatment strategy is recommended where anticoagulation is given first, followed by angioplasty when appropriate, then TIPS in patients not responding to previous measure, and finally liver transplantation. This strategy has achieved 5-year survival rates close to 90%.
原发性布加综合征与肝静脉或下腔静脉末端血栓形成有关。这种罕见疾病通常由多种并发因素引起，包括获得性和遗传性易栓症。原发性布加综合征患者中有一半患有骨髓增殖性疾病，对此的认识很大程度上基于对外周粒细胞中V617F Janus酪氨酸激酶2（JAK2）突变的评估。对于任何出现急性或慢性肝病的患者都应考虑布加综合征的诊断，因为其临床表现极为多样。有症状患者的自然转归较差。当影像学显示静脉阻塞和/或侧支循环时，大多数患者可通过非侵入性方法做出诊断。建议采用一种治疗策略，即首先给予抗凝治疗，然后在适当的时候进行血管成形术，对于对先前治疗无反应的患者进行经颈静脉肝内门体分流术（TIPS），最后进行肝移植。该策略已实现接近90%的5年生存率。
