Case studies

Familial hypercholesterolaemia: detect in an individual, treat the extended family

Damon Bell, Gerald Watts



Testing the family members of individuals who have been diagnosed with familial hypercholesterolaemia is a fundamental aspect of care of a person with this condition, and provides an opportunity for primary prevention.

Key Points

  • Familial hypercholesterolaemia (FH) is the most common monogenic condition associated with elevated LDL-cholesterol levels and premature coronary disease.
  • Half of the first-degree relatives of individuals with FH are also expected to have inherited this condition due to its autosomal dominant inheritance.
  • Most individuals with FH remain undiagnosed.
  • Cascade testing the family members of individuals with genetically confirmed FH is cost effective and detects an average of two additional patients per index case.

    Picture credit: © Bo Veisland/SPL.