FH is a condition of high levels of ‘bad cholesterol’ in the blood caused by a genetic mutation that affects 1 in 500 people. People with this inherited condition are at significant risk of premature heart disease.
It is estimated that 90 % of people with FH are unaware that they have the condition, which often comes to light only after they suffer an adverse event, such as a heart attack, often at an unusually young age.
Early identification and management of FH by GPs enable preventive treatments that can lower this risk, and can also indicate other family members who may have the condition. This case identification and ‘cascade screening’ could be of significant benefit to public health by reducing the frequency and impact of cardiovascular disease—currently the leading cause of death in Australia.
The Lishman Foundation study of systematic detection of FH , completed in 2014, has established recommended methods for identifying and following up potential cases in general practice.