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ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease

Overview
Journal JACC Case Rep
Specialty Cardiology & Vascular Diseases
Date 2023 Aug 7
PMID 37545679
Authors
Waqas A Malick
Ernst J Schaefer
Robert A Hegele
Robert S Rosenson
Affiliations
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Abstract

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. ().

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