转甲状腺素蛋白淀粉样变心肌病经氯苯唑酸治疗6个月1例

孙金鹏; 程敏

doi:10.13201/j.issn.1001-1439.2024.03.016

转甲状腺素蛋白淀粉样变心肌病经氯苯唑酸治疗6个月1例

孙金鹏^1,2,3,
程敏^1,2,3, ,

- 1.
  华中科技大学同济医学院附属协和医院心内科(武汉，430022)
- 2.
  生物靶向治疗研究湖北省重点实验室
- 3.
  心血管疾病免疫诊疗湖北省工程研究中心
基金项目:
国家自然科学基金项目(No：82070318)

详细信息

通讯作者: 程敏，E-mail：min_cheng@hust.edu.cn

中图分类号: R542.2

收稿日期: 2023-09-17

刊出日期: 2024-03-13

A case of transthyretin amyloid cardiomyopathy treated with tafamidis for 6 months

SUN Jinpeng^1,2,3,
CHENG Min^1,2,3, ,

- 1.
  Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China
- 2.
  Hubei Key Laboratory of Biological Targeted Therapy
- 3.
  Hubei Provincial Engineering Research Center of Immunological Diagnosis and Therapy for Cardiovascular Diseases

More Information

Corresponding author: CHENG Min, E-mail: min_cheng@hust.edu.cn

Received Date: 17 September 2023

Publish Date: 13 March 2024

摘要

摘要: 55岁的女性患者，因“反复胸闷、气促1年余，加重半个月余”入我院，同时伴有低血压及双下肢水肿，超声心动图提示左室壁弥漫性肥厚及心肌颗粒样改变，后经心肌磁共振、放射性核素骨闪烁扫描术、心内膜活检、单克隆免疫球蛋白检测、基因检测等检查最终被确诊为突变型转甲状腺素蛋白淀粉样变心肌病。该患者服用抑制甲状腺素蛋白淀粉沉积的特异性药物——氯苯唑酸后6个月，随访影像学检查提示心肌淀粉样蛋白沉积略有减少，实验室检查指标略有好转，但短期内发生慢性心力衰竭急性加重的周期并未明显缩短。⁹⁹Tc^m-PYP SPECT/CT是早期筛查和鉴别转甲状腺素蛋白淀粉样变性的有效工具，氯苯唑酸是目前治疗转甲状腺素蛋白淀粉样变心肌病的特效性药物。早筛查、早诊断、早期启动特异性靶向药物治疗将为转甲状腺素蛋白淀粉样变心肌病患者带来新的治疗前景。
- 转甲状腺素蛋白淀粉样变心肌病 /
- 心力衰竭 /
- 氯苯唑酸
Abstract: Here we report a case of a 55-year-old female patient who was admitted to our hospital with "recurrent chest tightness and shortness of breath for more than a year, aggravated for over half a month", accompanied by hypotension and bilateral lower extremity edema, with echocardiography suggesting diffuse hypertrophy of the left ventricular wall and granular changes of the myocardium. Her diagnosis of mutant transthyretin amyloid cardiomyopathy was finally confirmed by myocardial magnetic resonance, radionuclide bone scintigraphy, endomyocardial biopsy, monoclonal immunoglobulin assay, and genetic testing. Six-month follow-up of this patient after taking tafamidis, a specific drug inhibiting transthyretin amyloidosis, showed a slight decrease in myocardial amyloid deposition on ⁹⁹Tc^m-PYP SPECT/CT imaging and a slight improvement in laboratory tests, but the cycle of acute exacerbations of chronic heart failure occurring in the short term is not significantly shorter.⁹⁹Tc^m-PYP SPECT/CT is an effective tool for early screening and identification of transthyretin amyloidosis. Tafamidis is a potent drug for the treatment of transthyretin amyloid cardiomyopathy. Early screening, diagnosis, and administration of specific targeted pharmaceuticals will bring a new therapeutic outlook for patients with transthyretin amyloid cardiomyopathy.
- transthyretin amyloid cardiomyopathy /
- heart failure /
- tafamidis

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图 1 患者入院时心电图和超声心动图

Figure 1. Electrocardiogram and echocardiography at admission

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图 2 患者入院时CMR结果

Figure 2. CMR results at admission

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图 3 患者心内膜活检组织显微镜下病理结果

Figure 3. Pathological results of endometrial biopsy tissue under microscope

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图 4 患者心内膜活检组织电子显微镜下病理结果

Figure 4. Pathological results of endocardial biopsy tissue under electron microscope

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图 5 患者入院时⁹⁹Tc^m-PYP SPECT/CT结果

Figure 5. ⁹⁹Tc^m-PYP SPECT/CT results at admission

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图 6 患者使用氯苯唑酸胶囊前后⁹⁹Tc^m-PYP SPECT/CT结果

Figure 6. ⁹⁹Tc^m-PYP SPECT/CT results before and after taking tafamidisc capsules

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表 1 患者服用氯苯唑酸胶囊前后的部分指标

Table 1. Partial indicators before and after taking tafamidisc apsules

项目	用药前5个月	用药后2个月	用药后6个月	参考值
实验室指标
肌酸激酶/(U/L)	149	208	129	26~140
hs-cTnI/(ng/L)	51.0	106.5	86.4	＜26.2
BNP/(pg/mL)	555.3	659.1	212.9	＜100
尿素氮/(mmol/L)	9.57	7.25	5.83	3.2~7.1
肌酐/(μmol/L)	123.9	94.2	79.6	44~106
尿酸/(μmol/L)	503.1	514.5	374.0	155~357
尿白细胞	2+	阴性	阴性	阴性
尿蛋白	2+	阴性	阴性	阴性
尿潜血	3+	阴性	阴性	阴性
24h尿蛋白/mg	583			28~141
超声心动图指标
LAD/cm	4.5	4.2	4.3	2.7~3.5
LVD/cm	4.3	4.2	4.3	3.5~5.3
IVST/cm	1.9	1.9	1.9	0.8~1.1
LVEF/%	53	61	50	50~70
LVOT流速/(m/s)	0.8	1.0	0.6	0.7~1.2
AV流速/(m/s)	0.9	1.1	0.8	1.0~1.8
LAD：左心房内径；LVD：左心室内径；IVST：室间隔厚度；LVOT：左室流出道；AV：主动脉瓣口。

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参考文献(7)

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