ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease

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

doi:10.1016/j.jaccas.2023.101904

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 journal › Article › peer-review

3 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 language	English
Article number	101904
Journal	JACC: Case Reports
Volume	18
DOIs	https://doi.org/10.1016/j.jaccas.2023.101904
State	Published - 19 Jul 2023

Keywords

genetic disorders
lipid metabolism disorders
primary prevention

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10.1016/j.jaccas.2023.101904

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title = "ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease",

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.)",

keywords = "genetic disorders, lipid metabolism disorders, primary prevention",

author = "Malick, {Waqas A.} and Schaefer, {Ernst J.} and Hegele, {Robert A.} and Rosenson, {Robert S.}",

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doi = "10.1016/j.jaccas.2023.101904",

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T2 - A Rare Cause of Premature Coronary Artery Disease

AU - Malick, Waqas A.

AU - Schaefer, Ernst J.

AU - Hegele, Robert A.

AU - Rosenson, Robert S.

PY - 2023/7/19

Y1 - 2023/7/19

N2 - 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.)

AB - 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.)

KW - genetic disorders

KW - lipid metabolism disorders

KW - primary prevention

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VL - 18

JO - JACC: Case Reports

JF - JACC: Case Reports

M1 - 101904

ER -

ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease

Abstract

Keywords

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