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Familial hypercholesterolaemia
Implementing NICE guidance
2nd. edition – January 2012
NICE clinical guideline 71
Guideline review
Guideline issue date: August 2008
First review: August 2011
Review recommendation:
• The guideline should not be updated at this time.
What this presentation covers
Definitions
Background
Scope
Key priorities for implementation
Costs and savings
NHS Evidence and NICE Pathways
Discussion
Find out more
Definitions
• Cascade testing
• First-degree relative
• Index individual (case)/proband
• Lipid measurements/concentrations
• Mutation
• Second-degree relative
• Tendon xanthomata
• Third-degree relative
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.
Lifestyle advice
• Diet
• Physical activity
• Weight management
• Alcohol consumption
• Smoking
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 testing 4,728 4,728 4,728
Drug therapy for people identified through cascade testing 2,553 5,106 7,659
Specialist referrals for people identified through cascade testing 693 693 693
Annual review meetings 0 596 1,194
Coronary events avoided –452 –908 –1,361
Estimated cost of implementation 7,522 10,216 12,913
Costs correct at Aug. 2008. Costs not updated for 2nd 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 www.nice.org.uk/guidane/CG071 for:• Other guideline formats• Costing report and template• Audit support, including electronic audit tool• Implementation advice
Visit www.nice.org.uk/guidance/DG2 for the NICE diagnostic guidance on types of genetic tests for confirming a diagnosis of FH
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