Amyloid. 2013 Jun;20(2):138-40. doi: 10.3109/13506129.2013.790809. Epub 2013 May 2.
Cardiac amyloidosis had been considered to be an incurable disease; however, new disease-modifying therapeutic approaches have succeeded in ameliorating the disease. Therefore, early and precise diagnosis based on the amyloid precursor protein is extremely important.
To determine the prevalence rates of systemic amyloidoses underlying cardiac amyloidosis.
The types of amyloidosis in 53 consecutive patients with endomyocardial biopsy-proven cardiac amyloidosis were analyzed by Congo red and immunohistochemical staining. If staining for TTR was positive, direct DNA sequencing of the entire TTR gene was performed.
ATTR amyloidosis was the most common (32/53 patients, 60.4%). The ATTR amyloidosis subtypes were senile systemic amyloidosis (SSA) 11, familial ATTR 10, and genotype unknown 11. AL amyloidosis was the next most frequent (19/53, 35.8%).
ATTR amyloidosis, especially SSA, might be much more common than previously thought. With the development of new drugs targeting the ATTR amyloidosis, major efforts should be made to increase awareness of senile systemic amyloidosis among cardiologists.
心脏淀粉样变性曾被认为是一种无法治愈的疾病；然而，新的疾病修饰治疗方法已成功改善了这种疾病。因此，基于淀粉样前体蛋白进行早期和精确诊断极为重要。
确定导致心脏淀粉样变性的系统性淀粉样变性的流行率。
通过刚果红和免疫组织化学染色分析 53 例经心内膜心肌活检证实的心脏淀粉样变性患者的淀粉样变性类型。如果 TTR 染色阳性，则对整个 TTR 基因进行直接 DNA 测序。
ATTR 淀粉样变性最常见（32/53 例，60.4%）。ATTR 淀粉样变性亚型为老年性系统性淀粉样变性（SSA）11 例、家族性 ATTR 10 例和基因型未知 11 例。AL 淀粉样变性次之（19/53，35.8%）。
ATTR 淀粉样变性，尤其是 SSA，可能比之前认为的更为常见。随着针对 ATTR 淀粉样变性的新药的发展，应大力提高心脏病学家对老年性系统性淀粉样变性的认识。
