familial hypercholesterolaemia implementing nice guidance 2 nd. edition – january 2012 nice...
TRANSCRIPT
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Familial hypercholesterolaemia
Implementing NICE guidance
2nd. edition – January 2012
NICE clinical guideline 71
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Guideline review
Guideline issue date: August 2008
First review: August 2011
Review recommendation:
• The guideline should not be updated at this time.
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What this presentation covers
Definitions
Background
Scope
Key priorities for implementation
Costs and savings
NHS Evidence and NICE Pathways
Discussion
Find out more
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Definitions
• Cascade testing
• First-degree relative
• Index individual (case)/proband
• Lipid measurements/concentrations
• Mutation
• Second-degree relative
• Tendon xanthomata
• Third-degree relative
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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
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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.
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Key priorities for implementation
• Diagnosis
• Identifying people with FH using cascade testing
• Management
• Information needs and support
• Ongoing assessment and monitoring
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• 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
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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).
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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.
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Lifestyle advice
• Diet
• Physical activity
• Weight management
• Alcohol consumption
• Smoking
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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.
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Ongoing assessment and monitoring
• Offer all people with FH a regular structured review that is carried out at least annually.
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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
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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?
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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
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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
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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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