Fabry病的心臟表現：最新進展

Cardiac Manifestations of Fabry Disease: An Update

Fabry病是一種X-連鎖隱性溶酶體貯存障礙疾患，由α-半乳糖苷酶A活性缺乏引起，導致細胞和器官功能障礙，其原因是細胞內醯基鞘鞍醇三己糖進行性積累，隨後出現間質纖維化和平滑肌細胞增殖。Fabry病經常累及心臟。Fabry病患者可能發展為肥厚型心肌病、心律失常、心臟傳導障礙、瓣膜病和冠狀動脈病變。Fabry病由於其不斷變化的表現形式而具有挑戰性，常常導致診斷和治療的延誤。用半乳糖苷酶α和β的酶替代療法可清除心臟毛細血管中的醯基鞘鞍醇三己糖，並改善左心室的結構和功能。抗凝是治療Fabry病的關鍵，目的是預防栓塞後遺症。明顯的症狀性心動過緩和完全性傳導阻滯需要植入起搏器，惡性心律失常需要植入心律轉複除顫器。外科手術，如瓣膜手術、室間隔心肌切除術、冠狀動脈繞道手術或冠狀動脈血管成形術，已結合酶替代療法在少數Fabry病患者中嘗試，在早期和中期隨訪中取得了令人滿意的結果。本文的目的是對Fabry病的心血管病變進行綜述。

Fabry disease is an X-linked recessive lysosomal storage disorder caused by deficiency ofα-galactosidase A activity, leading to cellular and organ dysfunctions as a result of progressive intracellular accumulating globotriaosylceramide and subsequent interstitial fibrosis and smooth muscle cell proliferation. Fabry disease often affects the heart. Patients with Fabry disease may develop hypertrophic cardiomyopathy, arrhythmias, conduction disorders, valve disease and coronary artery lesions. Fabry disease poses challenges due to its constantly changing presentations, often leading to a delayed diagnosis and treatment. Enzyme replacements with agalsidasesαandβclear globotriaosylceramides from the capillaries of the heart and improve the structure and function of the left ventricle. Anticoagulation, aiming at preventing from embolic sequels, is essential for the treatment of Fabry disease. Marked symptomatic bradycardias and complete conduction blocks warrant pacemaker implantation and malignant dysrhythmias require an implantable cardioverter defibrillator. Surgical operations, such as valve surgery, myectomy and coronary artery bypass grafting or coronary artery angioplasty combined with enzyme replacement therapy have been attempted in a limited number of Fabry patients. Satisfactory results have been obtained under early and mid-term follow-ups. The purpose of this article is to make an overview of the cardiovascular involvements of Fabry disease.