ABCA1缺乏症：早发性冠状动脉疾病的罕见病因。
ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease.
作者信息
Malick Waqas A, Schaefer Ernst J, Hegele Robert A, Rosenson Robert S
机构信息
The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Boston Heart Diagnostics, Framingham, Massachusetts, USA.
出版信息
JACC Case Rep. 2023 Jun 12;18:101904. doi: 10.1016/j.jaccas.2023.101904. eCollection 2023 Jul 19.
ATP-binding cassette transporter A1 (ABCA1) deficiency results in very low high-density lipoprotein cholesterol levels. Complete ABCA1 deficiency, or Tangier disease, is characterized by premature atherosclerotic cardiovascular disease, yellow-orange tonsils, hepatosplenomegaly, peripheral neuropathy, and corneal opacification. Early recognition of this condition can lead to regular monitoring for atherosclerotic cardiovascular symptoms and treatment of major modifiable risk factors. ().
ATP结合盒转运蛋白A1（ABCA1）缺乏会导致高密度脂蛋白胆固醇水平极低。完全性ABCA1缺乏症，即丹吉尔病，其特征为早发性动脉粥样硬化性心血管疾病、黄橙色扁桃体、肝脾肿大、周围神经病变和角膜混浊。早期识别这种疾病可促使对动脉粥样硬化性心血管症状进行定期监测，并对主要的可改变危险因素进行治疗。（）
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