Yu T P, Hou J, Yang T J, Lei S, Yang M, Su Y Y, Chen Y C, Wu Y, Chen X Q
Department of Pathology, West China Hospital, Sichuan University, Chengdu 610041, China.
Department of Cardiology, West China Hospital, Sichuan University, Chengdu 610041, China.
Zhonghua Bing Li Xue Za Zhi. 2023 Jul 8;52(7):671-677. doi: 10.3760/cma.j.cn112151-20221230-01082.
To investigate the histological features and clinical manifestations in different types of cardiac amyloidosis to improve diagnostic accuracy. The histopathological features and clinical manifestations of 48 patients diagnosed with cardiac amyloidosis by Congo red stain and electron microscopy through endomyocardial biopsy were collected in West China Hospital of Sichuan University from January 2018 to December 2021. Immunohistochemical stains for immunoglobulin light chains (κ and λ) and transthyretin protein were carried out, and a review of literature was made. The patients age ranged from 42 to 79 years (mean 56 years) and the male to female ratio was 1.1 to 1.0. The positive rate of endomyocardial biopsy was 97.9% (47/48), which was significantly higher than that of the abdominal wall fat (7/17). Congo red staining and electron microscopy were positive in 97.9% (47/48) and 93.5% (43/46), respectively. Immunohistochemical stains showed 32 cases (68.1%) were light chain type (AL-CA), including 31 cases of AL-λ type and 1 case of AL-κ type; 9 cases (19.1%) were transthyretin protein type (ATTR-CA); and 6 cases (12.8%) were not classified. There was no significant difference in the deposition pattern of amyloid between different types (>0.05). Clinical data showed that ATTR-CA patients had less involvement of 2 or more organs and lower N-terminal pro-B-type natriuretic peptide (NT-proBNP) than the other type patients (<0.05). The left ventricular stroke volume and right ventricular ejection fraction of ATTR-CA patients were better than the other patients (<0.05). Follow-up data of 45 patients was obtained, and the overall mean survival time was 15.6±2.0 months. Univariate survival analysis showed that ATTR-CA patients had a better prognosis, while cardiac amyloidosis patients with higher cardiac function grade, NT-proBNP >6 000 ng/L, and troponin T >70 ng/L had a worse prognosis (<0.05). Multivariate survival analysis showed that NT-proBNP and cardiac function grade were independent prognostic factors for cardiac amyloidosis patients. AL-λ is the most common type of cardiac amyloidosis in this group. Congo red staining combined with electron microscopy can significantly improve the diagnosis of cardiac amyloidosis. The clinical manifestations and prognosis of each type are different and can be classified based on immunostaining profile. However, there are still a few cases that cannot be typed; hence mass spectrometry is recommended if feasible.
为研究不同类型心脏淀粉样变性的组织学特征和临床表现，以提高诊断准确性。收集了2018年1月至2021年12月在四川大学华西医院经心内膜心肌活检，通过刚果红染色和电子显微镜确诊为心脏淀粉样变性的48例患者的组织病理学特征和临床表现。进行了免疫球蛋白轻链（κ和λ）及转甲状腺素蛋白的免疫组织化学染色，并进行了文献复习。患者年龄在42至79岁之间（平均56岁），男女比例为1.1比1.0。心内膜心肌活检的阳性率为97.9%（47/48），显著高于腹壁脂肪活检的阳性率（7/17）。刚果红染色和电子显微镜检查的阳性率分别为97.9%（47/48）和93.5%（43/46）。免疫组织化学染色显示，32例（68.1%）为轻链型（AL-CA），其中包括31例AL-λ型和1例AL-κ型；9例（19.1%）为转甲状腺素蛋白型（ATTR-CA）；6例（12.8%）未分类。不同类型之间淀粉样蛋白的沉积模式无显著差异（>0.05）。临床资料显示，ATTR-CA患者累及两个或更多器官的情况较少，且N末端B型利钠肽原（NT-proBNP）低于其他类型患者（<0.05）。ATTR-CA患者的左心室每搏输出量和右心室射血分数优于其他患者（<0.05）。获得了45例患者的随访数据，总体平均生存时间为15.6±2.0个月。单因素生存分析显示，ATTR-CA患者预后较好，而心功能分级较高、NT-proBNP>6000 ng/L和肌钙蛋白T>70 ng/L的心脏淀粉样变性患者预后较差（<0.05）。多因素生存分析显示，NT-proBNP和心功能分级是心脏淀粉样变性患者的独立预后因素。AL-λ是该组中最常见的心脏淀粉样变性类型。刚果红染色联合电子显微镜检查可显著提高心脏淀粉样变性的诊断率。各类型的临床表现和预后不同，可根据免疫染色结果进行分类。然而，仍有少数病例无法分型；因此，可行时建议进行质谱分析。
