Fujita Takuro, Soyama Akihiko, Kosaka Taiichiro, Hara Takanobu, Matsushima Hajime, Kinoshita Ayaka, Imamura Hajime, Hamada Takashi, Satoh Akaya, Migita Kazushige, Kawaguchi Yuta, Adachi Tomohiko, Eguchi Susumu
Department of Surgery, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Nagasaki, Japan.
Surg Case Rep. 2025;11(1). doi: 10.70352/scrj.cr.25-0277. Epub 2025 Sep 3.
Osler-Weber-Rendu syndrome, or hereditary hemorrhagic telangiectasia (HHT), is a rare autosomal dominant genetic vascular disease characterized by arteriovenous malformations, vascular wall fragility, dilatation, and rupture of the vessels with hepatic symptoms. As HHT with hepatic symptoms is recognized as the primary etiology for liver transplantation, liver transplantation with liver grafts from donors affected by HHT is extremely rare. Herein, we report a successful liver transplantation in a patient with biliary atresia who received a whole-liver graft from a young brain-dead donor with HHT.
The patient was a 15-year-old girl with decompensated liver cirrhosis who underwent Kasai surgery for biliary atresia at 3 months of age. The donor was a female in her teens, diagnosed with brain death due to cerebral hemorrhage. Although the donor was diagnosed with Osler disease, she had no hepatic symptoms and normal liver function. CT did not reveal any apparent vascular malformations in the liver. A whole-liver transplant was performed using the donated liver. The patient recovered well in terms of liver function, without any hepatic-related symptoms.
Our experience with this patient may have important implications for liver transplantations from donors with HHT.
奥斯勒-韦伯-伦杜综合征，即遗传性出血性毛细血管扩张症（HHT），是一种罕见的常染色体显性遗传性血管疾病，其特征为动静脉畸形、血管壁脆弱、血管扩张以及伴有肝脏症状的血管破裂。由于伴有肝脏症状的HHT被认为是肝移植的主要病因，因此使用受HHT影响的供体肝脏进行肝移植极为罕见。在此，我们报告了一例胆道闭锁患者成功接受肝移植的病例，该患者接受了一位患有HHT的年轻脑死亡供体的全肝移植。
患者为一名15岁女童，患有失代偿性肝硬化，3个月大时因胆道闭锁接受了葛西手术。供体为一名十几岁的女性，因脑出血被诊断为脑死亡。尽管供体被诊断患有奥斯勒病，但她没有肝脏症状且肝功能正常。CT检查未发现肝脏有任何明显的血管畸形。使用捐赠的肝脏进行了全肝移植。患者肝功能恢复良好，没有任何与肝脏相关的症状。
我们对该患者的经验可能对使用患有HHT的供体进行肝移植具有重要意义。
