Feature Article

Familial hypercholesterolaemia: walking time bombs and digging for gold

Ian Hamilton-Craig
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Treatment of familial hypercholesterolaemia, one of medicine’s most cost-effective measures, can delay the onset of coronary heart disease and prolong life expectancy.

Key Points

  • Most GPs will have in their practice patients with heterozygous FH, whether recognised or not.
  • Most adults with FH are diagnosed sporadically. FH in children remains largely undiagnosed and untreated.
  • Coronary atherosclerosis in adult patients with FH can be controlled with effective LDL-C lowering, but this requires maximum doses of potent statins in combination with ezetimibe, and often resins and nicotinic acid as well.
  • Referral of patients with FH to a lipid clinic with experience in this area is the preferred option for family screening, a key component of FH management.
  • Ongoing management of patients with FH should be undertaken jointly by GPs and the lipid clinic.
  • There is a need for improved health professional and community awareness of FH as a serious and relatively common genetic disorder for which effective treatments are available.