Aim: Support for PCNs to improve detection of Familial Hypercholesterolemia in Primary Care

Familial hypercholesterolaemia (FH) is an inherited condition characterized by high cholesterol concentration in the blood. It is present from birth and may lead to early development of atherosclerosis and coronary heart disease (CHD). Half of all men will have a heart attack by age 50, and a third of all women by age 60. Most people with FH have inherited a defective gene for the condition from one parent only (heterozygous FH). Rarely, an affected person will inherit a genetic defect from both parents (homozygous FH). Based on a prevalence of 1/250 an average general practice of 10,000 will have approximately 40 patients with FH.

Currently only 8% of people with the condition are estimated to be diagnosed, and the NHS Long Term Plan has set the ambition of increasing this to 25% of the predicted number within 5 years.