Familial hypercholesterolaemia: a look back, a look ahead

John R Burnett, David Ravine, Frank M van Bockxmeer and Gerald F Watts
Med J Aust 2005; 182 (11): . || doi: 10.5694/j.1326-5377.2005.tb06810.x
Published online: 6 June 2005

We still have no national program for detecting this potentially lethal disorder

In 1985, Brown and Goldstein were awarded the Nobel Prize in Physiology and Medicine for unravelling the regulation of cholesterol metabolism in man. A key feature of their work was the elucidation of the molecular mechanism for autosomal dominant familial hypercholesterolaemia (FH), a potentially lethal disorder caused by defective endocytosis of low-density lipoprotein (LDL) cholesterol by its receptor (LDLR).1 This, in turn, led to the development of “statin” drugs, which potently lower plasma LDL cholesterol and reduce coronary heart disease (CHD) mortality. But, 20 years later, what have we achieved in detecting and treating FH?

  • John R Burnett1
  • David Ravine2
  • Frank M van Bockxmeer3
  • Gerald F Watts4

  • Royal Perth Hospital and University of Western Australia, Perth, WA.


Competing interests:

Gerald Watts is a member of the advisory boards for Merck Sharp and Dohme, Pfizer and AstraZeneca in Australia.


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