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

4 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

Access to Document

10.1016/j.jaccas.2023.101904

Cite this

@article{0cf280ba29324ca4b092d35f35761073,

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.\}",

note = "Publisher Copyright: {\textcopyright} 2023 The Authors",

year = "2023",

month = jul,

day = "19",

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

language = "English",

volume = "18",

journal = "JACC: Case Reports",

issn = "2666-0849",

publisher = "Elsevier Inc.",

}

TY - JOUR

T1 - ABCA1 Deficiency

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

UR - https://www.scopus.com/pages/publications/85161066271

U2 - 10.1016/j.jaccas.2023.101904

DO - 10.1016/j.jaccas.2023.101904

M3 - Article

AN - SCOPUS:85161066271

SN - 2666-0849

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

Access to Document

Fingerprint

Cite this