Blanshard C, Pasi J, Rolles K, Davidson B, Jain S, Burroughs A
Liver Transplantation Unit, Royal Free Hospital, London, UK.
Eur J Gastroenterol Hepatol. 1996 Sep;8(9):925-7.
We describe the first case of Budd-Chiari syndrome due to homozygosity for factor V Leiden resulting in resistance to activated protein C. This is now recognized as the most common procoagulant disorder, and may account for many cases of Budd-Chiari syndrome previously though to be idiopathic or due to a latent myeloproliferative disorder. A further unique feature of this case is that the patient required orthotopic liver transplantation following failure of portacaval shunting and progressive hepatic necrosis. We demonstrated that liver transplantation resulted in correction of the serum coagulation abnormality; however, it is unlikely to have cured the disorder as platelet factor V would still be of the Leiden phenotype.
我们描述了首例因因子V莱顿纯合导致对活化蛋白C抵抗而引发的布加综合征。因子V莱顿现已被认为是最常见的促凝紊乱，可能是许多先前被认为是特发性或由潜在骨髓增殖性疾病导致的布加综合征病例的病因。该病例的另一个独特之处在于，患者在门腔分流术失败和进行性肝坏死之后需要进行原位肝移植。我们证明肝移植纠正了血清凝血异常；然而，由于血小板因子V仍将是莱顿表型，不太可能治愈该疾病。
