Chairs: Elaine George
Speakers: Jane Breen
Familial Hypercholesterolaemia (FH) is a common genetic condition associated with impaired clearance of low-density lipoprotein cholesterol (LDL-C) from the circulation. If left untreated, there is an increased risk of premature coronary heart disease (CHD), 50% of men experiencing an event by age 50 and 30% of women by age 60.
Affecting approximately 1:270, less than 7% are identified in the UK, leaving a large proportion of the population undiagnosed.
Nice provides guidance (CG71) on the identification and management of FH, supporting the use of DNA testing for the diagnosis of FH and identification of at risk relatives through DNA cascade screening.
The Royal Brompton and Harefield NHS Foundation Trust, boasts a well-established service for the identification, diagnosis and management of patients with FH. We wish to share our experience of DNA testing for genetic variants known to cause FH and the cascade screening of relatives once a molecular diagnosis is confirmed.