Background Familial Hypercholesteroaemia (FH) High cholesterol in the blood is caused by an inherited genetic defect Raised cholesterol is present from birth and may lead to early development of atheroscleriosis and coronary heart disease Siblings and children of a person with FH have 50% risk of inheriting FH Prevalence in UK population is estimate to be 1 in 500 people, meaning approximately 110,000 are affected
Scope This guideline offers best practice advice on the identification and care of people with FH The guideline covers: Heterozygous and homozygous familial hypercholesterolaemia in adults and children. Identification, diagnostic testing and management. Primary, secondary and tertiary care settings.
Key priorities for implementation Diagnosis Identifying people with FH using cascade testing Management Information needs and support Ongoing assessment and monitoring
Always take a family history of premature coronary heart disease. In children, by the age of 10 years: –offer a DNA test if the family mutation is known –measure LDL-C concentration if the family mutation is not known. Do not use coronary heart disease risk estimation tools such as those based on the Framingham algorithm. Diagnosis
Identifying people with FH using cascade testing Offer all people with FH a referral to a specialist for confirmation of diagnosis and initiation of cascade testing. Conduct cascade testing: –using a combination of DNA testing and LDL- C concentration measurement –including at least first-, second- and, when possible, third-degree biological relatives of index individuals. Nationwide family-based follow-up system is recommended (currently unavailable).
Management Adult: Consider prescribing a high-intensity statin to achieve a reduction in LDL-C concentration of greater than 50% from baseline. Children and young people: Offer referral to a specialist with expertise in FH in children and young people, in an appropriate child/young person-focused setting.
Information needs and support For women and girls with FH: Provide information and counselling on contraception. Discuss risks for future pregnancy and the fetus while taking lipid- modifying drug therapy at least annually.
Ongoing assessment and monitoring Offer all people with FH a regular structured review that is carried out at least annually.
Costs and savings for England Recommendations with significant costs Costs year 1 (£000) Costs year 2 (£000) Costs year 3 (£000) Cascade testing4,728 Drug therapy for people identified through cascade testing2,5535,1067,659 Specialist referrals for people identified through cascade testing693 Annual review meetings05961,194 Coronary events avoided–452–908–1,361 Estimated cost of implementation7,52210,21612,913 Costs correct at Aug Costs not updated for 2 nd edition
For discussion What do we need to do to ensure efficient identification of people with FH? What is our local care pathway for FH? How will we involve commissioners to develop the cascade testing service? How are children with FH managed locally? What information and advice do we have to share with people with FH?
NICE Pathways Our new online tool provides quick and easy access, topic by topic, to the range of guidance from NICE Click here to go to NICE Pathways website
NHS Evidence Visit NHS Evidence for the best available evidence on all aspects of Familial Hypercholesterolaemia. Click here to go to the NHS Evidence website
Find out more Visit for:www.nice.org.uk/guidane/CG071 Other guideline formats Costing report and template Audit support, including electronic audit tool Implementation advice Visit forwww.nice.org.uk/guidance/DG2 the NICE diagnostic guidance on types of genetic tests for confirming a diagnosis of FH
What do you think? Did the implementation tool you accessed today meet your requirements, and will it help you to put the NICE guidance into practice? We value your opinion and are looking for ways to improve our tools. Please complete this short evaluation form.short evaluation form If you are experiencing problems accessing or using this tool, please To open the links in this slide set right click over the link and choose open link