Hattori Takeshi, Takei Yo-ichi, Koyama Jun, Nakazato Masamitsu, Ikeda Shu-ichi
Third Department of Medicine, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
Amyloid. 2003 Dec;10(4):229-39. doi: 10.3109/13506120309041740.
To clarify the clinicopathological features of cardiac amyloidosis in transthyretin (TTR) familial amyloid polyneuropathy (FAP), 169 patients were divided into three groups. Group I consisted of 113 patients with ATTR Val30Met who originated from an endemic focus, II consisted of 36 patients with ATTR Val30Met in nonendemic areas, and III consisted of 20 patients who had non-Val30Met ATTRs with 15 different gene mutations. The median age of onset in Group I was 34 years. On our initial examination, only one 65-year-old female patient was found to be suffering from congestive heart failure. During the follow-up of 65 patients, 7 developed congestive heart failure, the average duration of their illness being 8.7 years. In Group II, the median age of onset was 53 years and 6 of the 36 patients were diagnosed as having cardiac amyloidosis in the course of this disease. In 20 autopsied patients with ATTR Val30Met, congestive heart failure was clinically seen in 6 of the 20 and all 6 showed considerably increased cardiac weight (500g or more). In Group III patients with non-Val30Met ATTRs, the median age of onset was 51.5 years and 14 of the 20 patients had cardiac amyloidosis with congestive heart failure on admission or soon after a definite diagnosis. Cardiac amyloidosis occurs in the classical form of FAP with ATTR Val30Met, especially in older patients, and is also a common clinical manifestation in FAP patients with non-Val30Met ATTRs. In the pathogenesis of cardiac amyloidosis in ATTR FAP, aging seems to play an important role.
为阐明转甲状腺素蛋白（TTR）家族性淀粉样多神经病（FAP）中心脏淀粉样变性的临床病理特征，169例患者被分为三组。第一组由113例源自地方病区的ATTR Val30Met患者组成，第二组由36例非地方病区的ATTR Val30Met患者组成，第三组由20例具有15种不同基因突变的非Val30Met ATTR患者组成。第一组的中位发病年龄为34岁。在我们的初次检查中，仅发现一名65岁女性患者患有充血性心力衰竭。在65例患者的随访期间，7例出现充血性心力衰竭，其平均病程为8.7年。在第二组中，中位发病年龄为53岁，36例患者中有6例在病程中被诊断为心脏淀粉样变性。在20例ATTR Val30Met尸检患者中，20例中有6例临床上出现充血性心力衰竭，所有6例均显示心脏重量显著增加（500克或以上）。在第三组非Val30Met ATTR患者中，中位发病年龄为51.5岁，20例患者中有14例在入院时或确诊后不久即患有心脏淀粉样变性并伴有充血性心力衰竭。心脏淀粉样变性以ATTR Val30Met的经典FAP形式出现，尤其是在老年患者中，并且也是非Val30Met ATTR的FAP患者的常见临床表现。在ATTR FAP中心脏淀粉样变性的发病机制中，衰老似乎起着重要作用。
