Key elements of the nice fh guideline and the work of the heart uk fh git
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Key elements of the NICE FH Guideline and the work of the HEART UK FH GIT. Jonathan Morrell Hastings. National Health Checks 2009. Asymptomatic Non-smoker 124/62 Father died MI 49, paternal uncle angina 52, paternal grandfather sudden death 54 2 sons aged 6 and 3 2 brothers and 1 sister.

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Key elements of the NICE FH Guideline and the work of the HEART UK FH GIT

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Key elements of the NICE FH Guideline and the work of the HEART UK FH GIT

Jonathan Morrell

Hastings


National Health Checks 2009


Asymptomatic

Non-smoker

124/62

Father died MI 49, paternal uncle angina 52, paternal grandfather sudden death 54

2 sons aged 6 and 3

2 brothers and 1 sister

TC 9.8 HDL 1.4 TG 1.1

Banker 31


Prevalence of 10 Dyslipidaemias

Hypercholesterolaemia

Polygenic (common, 1 in 50)

Heterozygous FH (HeFH)(approx. 1 in 500)

Homozygous FH (HoFH)(approx. 1 in 1,000,000)

Hypertriglyceridaemia

Familial lipoprotein lipase deficiency(approx. 1 in 1,000,000)

Familial apolipoprotein CII deficiency(approx. 1 in 1,000,000)

Familial hypertriglyceridaemia(approx. 1 in 100)

Combined Hyperlipidaemia

Familial combined hyperlipidaemia(approx. 1 in 100)

Familial type III hyperlipidaemia (approx. 1 in 5,000)


Survey UK Lipid Clinics

Missing >85%

of predicted

  • How Common is FH ?

  • It is Common - Frequency FH ~1/500 120,000 in UK

  • It is underdiagnosed < 15,000 known, particularly in the < 35 years group (600/14,000 children)

Same as childhood diabetes

Marks, et al 2004

HEARTUK 2008

Neil, et al BMJ 2000


FH – natural history

Slack, Lancet.1969;1380-2


LDL- C Burden in FH patients

Starr et al 2008

FH patients have high LDL-C from Birth  high LDL-C BURDEN

LDL - Burden =

LDL-C level x

years exposure

Like smoking pack-years

By 45yrs FH patient has accumulated LDL-C exposure of non- FH 70yr old, explaining high CHD risk and need for aggressive lipid-lowering


Can LDL-C be lowered in FH patients?

Hadfield et al 2007

3.3 mmol/l

Overall

~ 50% reduction

6.7 mmol/l

But 34% > 4.0mmol/l

and 12% > 5.0mmol/l

n = 249

Low potency (cheap) Simvastatin 40 is inadequate for >95% FH patients

Combination therapy may be needed to achieve target


20-59 year olds

Pre Statin

1988–1992

> 2 fold

Post Statin

1992–1999

Statins reduce CHD in FH

Simon Broome UK-FH Register papers, BMJ 1991, Athero 1999,

8.1 = >23 yrs reduction

in life expectancy

~ 9 years gained by statins


Cancer and Total Mortality

Cancer

1980-91 (14)

1992-06 (76)

Total

1980-91 (55)

1992-06 (315)

Current Life Expectancy in treated FH patients

Neil et al E Heart J 2008

Age 20-79 years

CHD Mortality in those with/without CHD

Secondary

1980-91 (25)

1992-06 (108)

- 34%

- 25%

Primary

1980-91 (12)

1992-06 (45)

- 48%

- 29%

Based on 2766 (1456 M/1310 F) DFH + PFH patients. 190 CHD and 90 cancer deaths (37727 person years follow-up)


How should we identify people with FH?


Clinical signs

Eliza Parachute 1851


Xanthelasma


Corneal Arcus Lipidus


Tendon Xanthomas in HeFH


Simon Broome criteria

Definite FH:

TC > 6.7 mmol/l or LDL-C >4.0 mmol/l (child <16y)

or TC > 7.5 mmol/l or LDL-C >4.9 mmol/l (adult)

(levels either pre-treatment or highest on treatment)

plus

tendon xanthomas in patient, or in 10 relative (parent, sibling, child), or in 20 relative (grandparent, uncle, aunt)

or

DNA-based evidence of an LDL receptor mutation, familial defective apo B-100, or a PCSK9 mutation.

Possible FH is defined as above lipids plus one of:

family history of myocardial infarction: below age of 50 years in 20 relative or below age 60 years in 10 relative

or

family history of raised TC >7.5 mmol/l in adult 10 or 20 relative or > 6.7 mmol/l in child or sibling <16y


20 Relatives of FH Proband LDL Cholesterol Distribution


The LDL receptor

Brown and Goldstein

identified autosomal

dominant LDLR defect in FH

fibroblasts in 1974


The LDL-receptor pathway

ApoB3500 defects (binding ligand). 3-10%. Less severe phenotype

LDL receptor defect.80-95% of cases

Autosomal recessive hypercholesterolaemia. Rare

PCSK9 defect. Gain and loss of function mutations. 2%

Soutar, A Nat Clin Pract Cardiovasc Med 2006; 4:214


UCL 2008 Database of published LDLR mutations

Leigh et al Annals Hum Genet 2008

1066 different causes of FH reported world-wide

www.ucl.ac.uk/ldlr

Single base changes

+ small dels

W-Wide n = 949

UK n = 208

*

*p = 0.01


NICE FH Guidelines


  • Key priorities

Diagnosis

  • Use the Simon Broome criteria to diagnose FH

  • All individuals should be offered a DNA test to confirm the diagnosis and to assist in cascade testing of relatives

  • CHD risk estimation tools such as those based on the Framingham algorithm should not be used because people with FH are already at a high risk of CHD.

  • In children at risk of FH because of one affected parent the following diagnostic tests should be carried out by age of 10 years :

  • - a DNA test if the family mutation is known

    • - LDL-C measurement if mutation not known


  • Key priorities

Management

  • Adults - Prescribe a high-intensity statin to achieve a reduction in LDL-C of > 50% from baseline (ie, before treatment).

  • Children/young people – Should be seen by a specialist in an appropriate setting, and using clinical judgement, statin therapy considered by age 10

  • All people with FH should be offered an annual regular structured review

Ongoing assessment and monitoring

  • Cascade testing - combination of DNA testing and LDL-C levels is recommended to identify affected relatives of those with a clinical FH.

  • The use of a nationwide, family-based, follow-up system is recommended to enable comprehensive identification of people affected by FH.

Identifying people with FH using cascade testing


Pathway implementation

  • Scotland

  • Wales

  • Northern Ireland

  • England


NICE FH Guidelines

A guideline not a directive


HEART UK FH Guideline Implementation Team

  • Identify challenges and risks in the implementation of the NICE FH Guideline

  • Propose solutions and incorporate them into a FH Guideline Implementation toolkit

  • Support commissioning and delivery of services


HEART UK FH GIT

  • Raising profile NICE FH Guideline

  • www.heartuk.org.uk/fhgit

  • Influencing commissioning pathway

  • DH, primary care commissioning, RCGP, CV networks and SHAs

  • Support from BHF, PCCS and BCS

  • Identify service gaps (RCP audit)

  • Liaison with NICE

  • Toolkit development


HEART UK FH GIT

  • Anniversary campaign

  • SHA events

  • Consensus meeting

  • Finalise and launch toolkit

  • Patient campaign

  • Lobbying (parliamentary and SHAs)

  • GP survey

  • FOI requests to PCTs

  • Supporting commissioning bids


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