Yamashita T, Ando Y, Ueda M, Nakamura M, Okamoto S, Zeledon M E, Hirahara T, Hirai T, Ueda A, Misumi Y, Obayashi K, Inomata H, Uchino M
Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto 860-8556, Japan.
Neurology. 2008 Jan 8;70(2):123-8. doi: 10.1212/01.wnl.0000287089.28847.b5.
Patients with amyloidogenic transthyretin (ATTR) Tyr114Cys develop amyloid deposits in cerebral blood vessels, cerebral hemorrhage, and rapidly progressive dementia that presents with hereditary cerebral amyloid angiopathy (CAA). However, no treatment has been identified for CAA. Although liver transplantation has become an acceptable treatment of TTR-related amyloidosis, liver transplantation may not successfully treat CNS manifestations of the disorder. In this study, we examined the effect of liver transplantation on these manifestations of TTR-related CAA.
We compared clinical courses of three patients with CAA associated with ATTR Tyr114Cys who underwent liver transplantation with those of five patients with the disorder who did not undergo liver transplantation.
The mortality and occurrence of cerebral hemorrhage and dementia in patients having transplantations were reduced compared with those in patients not having transplantations. The two groups did not differ with regard to the frequency of episodes of fluctuating consciousness and TIAs. The group undergoing transplantations had significantly smaller volumes of intracranial hemorrhage than did the no-transplantation group.
Liver transplantation was effective for CNS manifestations of cerebral amyloid angiopathy associated with amyloidogenic transthyretin Tyr114Cys.
淀粉样前体蛋白转甲状腺素（ATTR）Tyr114Cys突变的患者会在脑血管中形成淀粉样沉积物，引发脑出血和以遗传性脑淀粉样血管病（CAA）为表现的快速进展性痴呆。然而，目前尚未找到针对CAA的治疗方法。尽管肝移植已成为治疗TTR相关淀粉样变性的一种可接受的治疗手段，但肝移植可能无法成功治疗该疾病的中枢神经系统表现。在本研究中，我们探讨了肝移植对TTR相关CAA这些表现的影响。
我们比较了3例ATTR Tyr114Cys相关CAA且接受肝移植的患者与5例未接受肝移植的该疾病患者的临床病程。
与未接受移植的患者相比，接受移植的患者的死亡率、脑出血和痴呆的发生率有所降低。两组在意识波动发作频率和短暂性脑缺血发作方面无差异。接受移植的组颅内出血量明显少于未移植组。
肝移植对与淀粉样前体蛋白转甲状腺素Tyr114Cys相关的脑淀粉样血管病的中枢神经系统表现有效。
