Suhr O B, Holmgren G, Steen L, Wikström L, Norden G, Friman S, Duraj F F, Groth C G, Ericzon B G
Department of Medicine, Umeå University Hospital, Sweden.
Transplantation. 1995 Nov 15;60(9):933-8.
Familial amyloidotic polyneuropathy (FAP) is an inherited fatal form of amyloidosis caused by mutant transthyretin. The disease is characterized by progressive peripheral and autonomic neuropathy. Most of the transthyretin is produced by the liver, and we have shown previously that the metabolic deficiency can be corrected by liver transplantation. In the present study, the clinical results from the first 20 patients who underwent liver transplantation for FAP in Sweden are evaluated. Three of the patients suffered from renal failure and underwent a simultaneous kidney transplantation. Fourteen of the 20 patients (70%) are alive 10-52 months after transplantation. The patients' nutritional status at the time of transplantation had a significant impact on mortality and morbidity (P < 0.007). Long-standing disease was another negative prognostic factor (P < 0.02). One year after transplantation, the nutritional status had improved (P < 0.02). Improvements were also noted in walking capacity and for gastrointestinal and urogenital symptoms. The results show that liver transplantation offers an effective means to treat patients with FAP. The procedure should preferably be performed before the nutritional status is poor and advanced organ dysfunction has developed.
家族性淀粉样多神经病（FAP）是一种由突变型转甲状腺素蛋白引起的遗传性致命性淀粉样变性病。该疾病的特征是进行性外周和自主神经病变。大多数转甲状腺素蛋白由肝脏产生，我们之前已经表明，代谢缺陷可通过肝移植得到纠正。在本研究中，对瑞典首批20例接受FAP肝移植患者的临床结果进行了评估。其中3例患者患有肾衰竭并同时接受了肾移植。20例患者中有14例（70%）在移植后10 - 52个月存活。患者移植时的营养状况对死亡率和发病率有显著影响（P < 0.007）。病程较长是另一个不良预后因素（P < 0.02）。移植后一年，营养状况有所改善（P < 0.02）。步行能力以及胃肠道和泌尿生殖系统症状也有改善。结果表明，肝移植为治疗FAP患者提供了一种有效手段。该手术最好在营养状况较差和出现晚期器官功能障碍之前进行。
