Familial hypercholesterolaemia

What you need to knowFamilial hypercholesterolaemia is a common genetic condition affecting 1 in 310 people, resulting in premature coronary artery disease due to elevated cholesterol levels from birthIf a parent has familial hypercholesterolaemia, there is a 50% chance their child will inherit the conditionTreatment is based on lowering low density lipoprotein (LDL) cholesterol concentration, with a target of at least 50% reduction from baselineHeterozygous 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.5What is familial hypercholesterolaemia?Familial hypercholesterolaemia is caused by a functional mutation that impairs LDL receptor-mediated uptake of the LDL particle, therefore resulting in higher LDL cholesterol…
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