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### What you need to know Heterozygous familial hypercholesterolaemia is the most common autosomal dominant genetic condition, affecting approximately 1 in 310 people around the world.12 It causes markedly elevated low density lipoprotein (LDL) cholesterol from birth.1234 It has a high penetrance, and elevated LDL cholesterol can begin in utero, with an LDL cholesterol concentration >4 mmol/L in children and >5 mmol/L in adults suggesting its presence.5 Familial hypercholesterolaemia is caused by a functional mutation that impairs LDL receptor-mediated uptake of the LDL particle, therefore resulting in higher LDL cholesterol in the bloodstream.67 Most of those affected (85-90%) have a mutation in the LDL receptor gene.68 Familial hypercholesterolaemia can be classified as heterozygous or homozygous depending on the presence of one or two affected gene alleles.9 However, the heterozygous form is common, whereas the homozygous form is very rare. It is estimated that 25-35 mi

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