以腹水为首发表现的家族性法布雷心肌病1例

田维祥; 伍鑫; 左明良; 于涛; 王文艳

doi:10.13201/j.issn.1001-1439.2024.02.014

以腹水为首发表现的家族性法布雷心肌病1例

- 1.
  电子科技大学(成都，611731)
- 2.
  四川省医学科学院·四川省人民医院心衰中心
基金项目:
四川省科技计划项目(No：2020YFQ0060)；四川省人民医院基金项目(No：2021LZ02)

详细信息

通讯作者: 王文艳，E-mail：ddmm611@163.com

中图分类号: R542.2

收稿日期: 2023-07-02

刊出日期: 2024-02-13

Ascites as the initial manifestation of familial Fabre cardiomyopathy: one case report

- 1.
  University of Electronic Science and Technology of China, Chengdu, 611731, China
- 2.
  Heart Failure Center, Medical School, Sichuan Academy of Medical Sciences·Sichuan Provincial People's Hospital

More Information

Corresponding author: WANG Wenyan, E-mail: ddmm611@163.com

Received Date: 02 July 2023

Publish Date: 13 February 2024

摘要

摘要: 本文报道1例以腹水为首发表现，后诊断为心脏孤立受累型家族性法布雷病患者。该患者因腹胀、心源性腹水反复就诊于各大医院，心力衰竭病因无法明确，长期利尿、多次行腹腔穿刺引流等治疗，患者腹胀缓解期进行性缩短。近期患者因腹胀进行性加重，影像学提示腹腔积液在短期内显著增加而就诊。入院后完善心脏磁共振、法布雷基因筛查、α-Gal A酶活性等检查，确诊为法布雷心肌病，并予以酶替代治疗，腹胀控制良好。心脏变异型法布雷病临床上十分罕见，以体循环淤血为主要及首发表现的法布雷心肌病更是鲜有报道。该病例警示，在临床上出现不明原因右心衰竭或限制性心肌病时，应考虑进行法布雷病筛查，以尽早启动特异性治疗。
- 法布雷病 /
- 心脏变异型 /
- 腹水 /
- 遗传性
Abstract: This article reports a rare case of Fabry disease with isolated cardiac involvement that presented initially with abdominal fluid accumulation. The patient had been repeatedly hospitalized for abdominal distension and had undergone various examinations, with suspected cardiac ascites due to heart failure as the underlying cause. Despite prolonged use of diuretics and multiple abdominal paracentesis procedures, relief was only temporary and the symptoms worsened over time. The patient was eventually diagnosed with Fabry cardiomyopathy based on enhanced cardiac computed tomography, Fabry gene screening, and α-Gal A enzyme activity analysis, and was treated with enzyme replacement therapy. It is notable that Fabry disease primarily presenting with systemic congestion or abdominal symptoms is extremely rare. This case highlights the importance of considering Fabry disease screening in patients who present with unexplained right heart failure or restrictive cardiomyopathy, and initiating specific treatment as early as possible.
- Fabry disease /
- cardiac variant /
- ascites /
- heredity

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图 1 心脏磁共振(2022.07.07)

Figure 1. Cardiac magnetic resonance

下载: 全尺寸图片幻灯片

图 2 法布雷病GLA基因检测

Figure 2. GLA gene detection of Fabry disease

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图 3 家系谱图

Figure 3. Family tree

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