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Case studies
Familial hypercholesterolaemia: detect in an individual, treat the extended family
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Abstract
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.
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