Familial Hypercholesterolaemia is a monogenic disorder characterised by high concentrations of low-density lipoprotein (LDL) cholesterol. It is common with estimated prevalence around 1 in 350 people. Patients with untreated familial hypercholesterolaemia have an increased risk of premature cardiovascular disease; more than 50% in men and more than 30% in women are affected by 60 years.
This guideline is to inform primary and secondary care healthcare professionals when to consider familial hypercholesterolaemia, what investigations to do, where to refer to and likely outcomes.
All patient groups should be considered as to whether they meet these criteria.