ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease

Waqas A. Malick, Ernst J. Schaefer, Robert A. Hegele, Robert S. Rosenson

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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 recogtion of this condition can lead to regular monitoring for atherosclerotic cardiovascular symptoms and treatment of major modifiable risk factors. (Level of Difficulty: Beginner.)

Original languageEnglish
Article number101904
JournalJACC: Case Reports
Volume18
DOIs
StatePublished - 19 Jul 2023

Keywords

  • genetic disorders
  • lipid metabolism disorders
  • primary prevention

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