Familial hypercholostrolaemia: A South African perspective

  • Prof NJ Crowther University of the Witwatersrand Medical school
  • Dr JE Paiker University of the Witwatersrand Medical school

Abstract

LDl-cholesterol is cleared from the circulation via the LDl-receptor which is found predominantly on hepatocytes, although the kidney, spleen, skeletal muscle and small intestine also play a role in LDL metabolism. Mutations in the gene encoding the LDL receptor, which is found on chromosome 19, lead to disruption of receptor function or lowered levels of the receptor at the cell surface, the consequence of which is a reduction of LDL clearance from the circulation and increased hepatic synthesis of cholesterol.

Author Biographies

Prof NJ Crowther, University of the Witwatersrand Medical school
PhD Dept of Chemical Pathology, National Health Laboratory Service
Dr JE Paiker, University of the Witwatersrand Medical school
MBChB, FCPath(SA) Dept of Chemical Pathology, National Health Laboratory Service
Issue
Vol 45 No 3 (2003)
Section
CPD
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