Marked cardiomegaly in a patient with familial amyloidotic polyneuropathy after orthotopic liver transplantation: a case study
Marked cardiomegaly in a patient with familial amyloidotic polyneuropathy after orthotopic liver transplantation: a case study
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家族性淀粉样多发性神经病患者原位肝移植后出现明显心脏扩大：案例研究
作者：
Sakashita N;Kagawa S;Date R;Ueno T;Nakagawa T;Yamashita T;Obayashi K;Ohshima T;Ueda M;Horiguchi H;Ando Y;Takeya M
肝细胞来源的突变型淀粉样变性甲状腺素（ATTR）引起家族性淀粉样变性多神经病变（FAP），对于这种疾病，原位肝移植是一种公认的治疗方法。然而，一些FAP患者在移植后出现心脏淀粉样变。在这里，我们描述了一名被诊断为FAP ATTR Val30Met的自主神经障碍患者，肝移植后心脏明显增大。他在49岁时接受了原位肝移植，并开了泼尼松龙以防止移植排斥。两年后，自主神经功能障碍和严重心力衰竭逐渐发展。他在59岁时突然去世。尸检显示明显的心脏肥大（心脏重量：1020g）。组织学和超微结构检查显示大量淀粉样蛋白沉积和与糖皮质激素受体（GR）核易位相关的异常心肌肥厚损伤。无心力衰竭的FAP患者无GR核易位。GR是一种核转录因子，可导致心肌肥大，累积泼尼松龙剂量可促进明显的心脏肥大和严重的心脏淀粉样变性。
Hepatocyte‐derived mutant amyloidogenic transthyretin (ATTR) causes familial amyloidotic polyneuropathy (FAP), for which orthotopic liver transplantation is an established curative treatment. However, some patients with FAP have cardiac amyloidosis after transplantation. Here, we describe a man with an autonomic disorder diagnosed as FAP ATTR Val30Met and marked cardiomegaly after liver transplantation. He underwent orthotopic liver transplantation at 49 years of age and was prescribed prednisolone to prevent graft rejection. Two years later, autonomic dysfunction and severe heart failure gradually developed. He died suddenly at 59. The autopsy revealed marked cardiomegaly (heart weight: 1020 g). Histological and ultrastructural examinations demonstrated massive amyloid deposition and unusual myocardial hypertrophic injury associated with nuclear translocation of the glucocorticoid receptor (GR). No other FAP patients without heart failure showed GR nuclear translocation. GR is a nuclear transcription factor that leads to myocardial hypertrophy, and cumulative prednisolone doses may promote marked cardiomegaly and severe cardiac amyloidosis.