A novel homozygous ABCA1 variant in an asymptomatic man with profound hypoalphalipoproteinemia

Yaser Carcora, Robert D. Brook, Linda Farhat, Cristen J. Willer, Melvyn Rubenfire, Daniel Seung Kim

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Low high-density lipoprotein cholesterol (HDL-C) can be caused by several acquired secondary causes as well as primary genetic disorders. However, only a few conditions are associated with profoundly reduced levels below 10 mg/dL. We present an unusual case of a healthy man with severely decreased HDL-C because of a novel homozygous variant causing a Proline > Arginine amino acid change at position 1412 in the ATP-binding cassette transporter A1 gene. Homozygous variations in ATP-binding cassette transporter A1 typically cause Tangier disease, a rare autosomal recessive condition linked with several other abnormalities (eg, enlarged discolored tonsils). Despite having an HDL-C below 10 mg/dL, our patient presented without any other clinical symptoms or physical signs suggestive of Tangier disease. This case of presumptive Tangier disease adds support to the growing body of evidence that this genetic disorder may have greater phenotypic heterogeneity along with a more varied presentation than traditionally considered.

Original languageEnglish (US)
Pages (from-to)878-882
Number of pages5
JournalJournal of Clinical Lipidology
Volume12
Issue number4
DOIs
StatePublished - Jul 1 2018

Bibliographical note

Funding Information:
Funding: University of Michigan Cardiovascular Center Inaugural Grant. D.S.K. was supported by AHA 16POST27250048.

Publisher Copyright:
© 2018 National Lipid Association

Keywords

  • Atherosclerosis
  • Coronary artery disease
  • Genetics
  • HDL cholesterol
  • Low HDL
  • Novel rare genetic variant
  • Tangier's disease

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