NICE has published an update to NICE Clinical Guideline (CG) 71 on Familial hypercholesterolaemia: identification and management.
Familial hypercholesterolaemia (FH) is an inherited condition that causes a raised cholesterol concentration in the blood from birth, increasing the risk of early development of atherosclerotic disease.
As FH shows an autosomal dominant inheritance pattern, children with one parent who has FH have a 50% chance of also inheriting the condition. In rare cases, FH can be inherited from both parents, which is associated with childhood symptoms and early death from coronary heart disease.
In the 2017 update to CG71, recommendations on case finding, diagnosis, and pharmacological monotherapy were updated to reflect improvements in the cost-effectiveness of cascade testing and the efficiency of DNA diagnosis technology, as well as including more evidence surrounding the use of statins.
The recommendations made by CG71 cover the following areas:
- case finding and diagnosis
- identifying people with FH using cascade testing
- information needs and support
- ongoing assessment and monitoring.