Chinese Expert Consensus on the Diagnosis and Treatment of Adult Fabry Disease Cardiomyopathy
10.3760/cma.j.cn112148-20231008-00263
- VernacularTitle:成人法布雷病心肌病诊断与治疗中国专家共识
- Author:
Chinese Society of Cardiology,Chinese Medical Association
1
;
Editorial Board of Chinese Journal of Cardiology
;
Shuyang ZHANG
;
Yaling HAN
Author Information
1. 中国医学科学院北京协和医院心内科疑难重症及罕见病全国重点实验室国家罕见病医疗质量控制中心,北京 100730
- Keywords:
Fabry disease;
cardiomyopathy;
diagnosis;
treatment
- From:
JOURNAL OF RARE DISEASES
2024;3(3):335-344
- CountryChina
- Language:Chinese
-
Abstract:
Fabry disease(FD)is an X-linked genetic disorder caused by mutations in the GLA gene.It leads to reduced or complete deficiency of the activity of α-galactosidase A(α-Gal A),resulting in an accumu-lation of the metabolic substrate globotriaosylceramide(Gb3)and its derivative,globotriaosylsphingosine(Lyso-Gb3),in a wide range of cells and tissues,which causes multiple organ pathologies.In the cardiovascu-lar system,FD predominantly leads to left ventricular hypertrophy and/or conduction abnormalities known as FD cardiomyopathy.Since FD cardiomyopathy is the leading cause of death in adult patients with FD,early diagnosis combining cardiac imaging,enzyme and substrate activity,genetic testing,and tissue biopsy,as well as early specific enzyme replacement therapy are important to improve patient prognosis.This consensus comprehen-sively summarizes the published evidence related to the diagnosis and treatment of FD cardiomyopa-thy at home and abroad,and provides a basis for the diagnosis and management of FD cardiomyopathy.
