Familial hypercholesterolaemia (FH) is the commonest genetic disorder in people of European and Japanese descent, affecting about 1 in 500 people. It is characterised by high levels of total and LDL cholesterol and is the most important clinical syndrome leading to premature coronary heart disease (CHD). Despite huge advances in unravelling its complex pathophysiology and the effectiveness of modern treatments, awareness of the syndrome and its consequences remains low and affected individuals are still overlooked and denied the potential benefits of treatment.