Preliminary exploration of the pathogenesis of Fabry disease in traditional Chinese medicine
Author: Cui Kun Xie Liandi
keyword:Fabry disease ; Etiology and pathogenesis ; Traditional Chinese Medicine ; Organ dysfunction ; Theory of visceral manifestations
Fabry disease(FD) is an X-linked genetic lysosomal storage disorder that involves the heart. In FD patients, due to gene mutations in α-galactosidase(α-Gal) located at Xq22.1, the activity of α-Gal is reduced or completely lacking, causing a large accumulation of lipids such as trihexosylceramide(GL-3), a metabolic substrate, in organs such as the heart, kidneys, nerves, and skin, and then triggering various clinical symptoms.With the continuous deepening of research on FD, the pathological mechanisms of many FD-related organ dysfunctions have been clarified. However, there is currently no specific drug for FD. Most FD patients experience a significant reduction in quality of life due to heart and kidney damage and even face life-threatening situations. The author has treated some FD patients and achieved certain curative effects. Looking back at the "Expert Consensus on the Diagnosis and Treatment of Fabry Disease in China", there is not a single word about traditional Chinese medicine. In view of this, this article preliminarily discusses the etiology and pathogenesis of FD based on the theory of visceral manifestations, aiming to provide a theoretical basis for the treatment of FD with traditional Chinese medicine and practical value for clinical practice.