Standard Article

Familial Hypercholesterolaemia

  1. Carl Fisher1,
  2. Bradley E Bernstein2,
  3. Stephen C Blacklow3

Published Online: 25 APR 2001

DOI: 10.1038/npg.els.0002011

eLS

eLS

How to Cite

Fisher, C., Bernstein, B. E. and Blacklow, S. C. 2001. Familial Hypercholesterolaemia. eLS. .

Author Information

  1. 1

    Brigham and Women's Hospital, Boston, Massachusetts, USA

  2. 2

    Brigham and Women's Hospital, Boston, Massachusetts, USA

  3. 3

    Brigham and Women's Hospital, Boston, Massachusetts, USA

Publication History

  1. Published Online: 25 APR 2001

Abstract

Familial hypercholesterolaemia is a genetic disease, resulting from mutation of the low-density lipoprotein (LDL) receptor, that is characterized clinically by elevation of LDL cholesterol in the blood and premature atherosclerosis.

Keywords:

  • cholesterol;
  • LDL receptor;
  • low-density lipoprotein;
  • genetic disease;
  • autosomal dominant;
  • tendon xanthoma;
  • receptor-mediated endocytosis