Case studies

A patient with familial hypercholesterolaemia unable to achieve target LDL-cholesterol levels

Leon A Simons



Without treatment, a man with heterozygous familial hypercholesterolaemia has a 51% chance of presenting with coronary disease by age 50 years and a woman has a 58% chance by age 60 years.

Key Points

  • Patients with heterozygous familial hypercholesterolaemia (FH) have a high risk of manifesting with premature coronary disease.
  • Treatment with statins (and other standard cardiovascular medications) is likely to be beneficial.
  • Multiple lipid-regulating drugs may not achieve target LDL-cholesterol readings in patients with FH, but a 50% reduction in LDL-cholesterol levels is acknowledged as an acceptable secondary goal.