Purpose of Review
Familial hypercholesterolaemia (FH) is an inherited disorder of low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol level from birth and a high risk of premature coronary heart disease. In this paper, we review the genetic basis of FH and its impact on the clinical presentation.

/pdf/genetic-architecture-of-familial-hypercholesterolaemia-1s2g9s1969.pdf

Genetic Architecture of Familial Hypercholesterolaemia.

Cardiovascular biomarkers in monogenic familial hypercholesterolaemia and polygenic hypercholesterolaemia

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Cardiovascular biomarkers in monogenic familial hypercholesterolaemia and polygenic hypercholesterolaemia