ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease

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 neuropath...

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Detalles Bibliográficos
Autores principales: Malick, Waqas A., Schaefer, Ernst J., Hegele, Robert A., Rosenson, Robert S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10401051/
https://www.ncbi.nlm.nih.gov/pubmed/37545679
http://dx.doi.org/10.1016/j.jaccas.2023.101904
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author Malick, Waqas A.
Schaefer, Ernst J.
Hegele, Robert A.
Rosenson, Robert S.
author_facet Malick, Waqas A.
Schaefer, Ernst J.
Hegele, Robert A.
Rosenson, Robert S.
author_sort Malick, Waqas A.
collection PubMed
description 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. (Level of Difficulty: Beginner.)
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spelling pubmed-104010512023-08-05 ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease Malick, Waqas A. Schaefer, Ernst J. Hegele, Robert A. Rosenson, Robert S. JACC Case Rep Case Report 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. (Level of Difficulty: Beginner.) Elsevier 2023-06-12 /pmc/articles/PMC10401051/ /pubmed/37545679 http://dx.doi.org/10.1016/j.jaccas.2023.101904 Text en © 2023 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Malick, Waqas A.
Schaefer, Ernst J.
Hegele, Robert A.
Rosenson, Robert S.
ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease
title ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease
title_full ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease
title_fullStr ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease
title_full_unstemmed ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease
title_short ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease
title_sort abca1 deficiency: a rare cause of premature coronary artery disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10401051/
https://www.ncbi.nlm.nih.gov/pubmed/37545679
http://dx.doi.org/10.1016/j.jaccas.2023.101904
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