Developing FH services in South West and South East

London

Anthony S. WierzbickiConsultant in metabolic medicine/chemical pathology

Guy’s & St Thomas’ HospitalsLondon

Statement of Interests• Member: HEART-Uk FH guideline

implementation group

• Ex-Chairman Medical Scientific & Research Committee HEART-UK (2002-8)

• Member NICE-FH guideline group (2007-8)• Member: SE London cardiac network• Clinical Lead : Lipid & Obesity services GSTT

NHS Vascular risk programme briefing packs ; ww.doh.gov.uk

The NHS (Vascular) Health Check

Risk assessment Risk Management

RECALL

Cholesterol test

Smoking status

Physical activity

Body Mass Index

Age

Gender

Ethnicity

Diabetes filter• BMI • BP measure

BP Measure

Statins prescription offered*

Exercise on prescription or other physical activity intervention

NHS stop smoking services referral

Weight management on referral

Vascular Checks Programme

Family history

EX

ITH

igh Risk

annual

reviews

RiskAssessment

EX

IT

Hypertension register

EX

IT

Diabete

s register

EX

IT

CK

D

register

^People recalled to separate appointments for diagnosis

Anti-hypertensives prescription *

Serum Creatinine^

Assessment for hypertension^

IFG/IGT lifestyle management advice

Oral Glucose Tolerance test^

DM

High

FPG/HbA1c

Raised blood pressure

IFG/IGT

If at risk

eGFR Low

Communication of risk

Sign post or refer to lifestyleinterventions

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Key:

DM: Diabetes Mellitus

eGFR: estimated Glomerular Filtration Rate

IFG: Impaired Fasting Glucose

IGT: Impaired Glucose Tolerance

Behaviour change tool e.g. Mid Life LifeCheck

If CVD risk assessed as >20%

If blood sugar high

*or professionals with suitable patient information and prescribing rights

CKD assessment

NHS Health Check

Lay knowledge of FH in families (Australia)

Maxwell SJ et al; Gen Test Mol Biomarker 2009; 13 : 301-6

LDL-C distributions in FH and the general population

Starr BA et al; CCLM 2008; 46 : 791-803

Changing mortality of CHD in the last century

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Definite FH (V408M)

Possible FH (V408M)

Populationrate

Based on Stallones RA; Sci Am 243; (11) 43

Sijbrands EJG et al; BMJ 2001; 322: 1019

FH Pathway : NICE CG71

TC ≥ 7.5 with family history of CVD (1st ° relative CVD < 60 yrs old) = High suspicion group (about 2% of the pop)

1º CARE (NHS Health Check)

Referred for assessment with a Primary Care Professional with special interest in CVD - (GPSI or Nurse Practitioner or SpR) & LPA exclusion tests to track family heart disease.

50% will be referred back to GP (non FH) to continue with normal CVD risk assessment.

50% will be referred up into 2º CARE (as possible FH)

Cholesterol ≥7.5Lab. Notification to GP recheck full fasting lipids & FPG & Rule our 2nd causes

High Suspicion Group to be filtered (~1% of the pop)Simon Broome criteria

SB(+) DNA / Genetic test

FH NegativeFH (+) or clinical (+) DNA (-) but high suspicion

Managed pathway back to

1 º CARE

SB (-) No DNA / Genetic test

Long Term Management i.e. FH Positive/ Negative but high suspicion

Info provided for relatives for Cascade Testing (see separate pathway)

Long term management of children <16 in paediatric setting with

transition protocol to adult services

1/3 = Stabilised.respond to treatment immediately referred back to 1º CARE for yearly monitoring with a plan and a formal 5yr review to be considered for referral

1/3 Problematic need longer before

being stabilised

1/3 = Complex need

continual 2º CARE involvement.

Shared Care + Register of FH (kept in 2º CARE)

FH tendon xanthomata

• N=348 (52% male)• CHD (+) 9.5%• Tendon xanthomata (physical): 27.6%• TX(+) by ultrasound: 56.6%• TX(-) both methods: 39.4%• Determined by LDL-C, age, gender

• (19% variance)

Jarauta E et al; Atherosclerosis 2008; 204: 345-7

FH: tendon xanthomata & risk

Civiera F et al ; ATVB 2005; 25: 1960-5

Oosterveer DM et al ; Atherosclerosis 2009 in press

What Is Carotid Intima MediaThickness (CIMT)?

Normal and DiseasedArterial Histology

Mean CIMT 1.174 mm

Tendon xanthomata & cIMT

Jarauta E et al; Atherosclerosis 2008; 204: 345-7

cIMT in FH and controls

deGroot E et al; Circulation 2004; 109 suppl III : 33-38

FH

Controls

FH Pathway

TC ≥ 7.5 with family history of CVD (1st ° relative CVD < 60 yrs old) or TC ≥ 9 no family history = High suspicion group (about 2% of the pop)

1º CARE (NHS Health Check)

Referred for assessment with a Primary Care Professional with special interest in CVD - (GPSI or Nurse Practitioner or SpR) & LPA exclusion tests to track family heart disease.

50% will be referred back to GP (non FH) to continue with normal CVD risk assessment.

50% will be referred up into 2º CARE (as possible FH)

Cholesterol ≥7.5Lab. Notification to GP recheck full fasting lipids & FPG & Rule our 2nd causes

High Suspicion Group to be filtered (~1% of the pop) & cIMT screening out (eventually used at 1º CARE stage)

DNA / Genetic test

FH NegativeFH Positive/ Negative but high suspicion

Managed pathway back to

1 º CARE

Simon B Criteria

No DNA / Genetic test

Long Term Management i.e. FH Positive/ Negative but high suspicion

Info provided for relatives for Cascade Testing (see separate pathway)

Long term management of children <16 in paediatric setting with

transition protocol to adult services

1/3 = Stabilised.respond to treatment immediately referred back to 1º CARE for yearly monitoring with a plan and a formal 5yr review to be considered for referral

1/3 Problematic need longer before

being stabilised

1/3 = Complex need

continual 2º CARE involvement.

Shared Care + Register of FH (kept in 2º CARE)

Cascade Testing Pathway

▪Random Cholesterol▪DNA test for known family mutation (mouth

swab)

FH Index Individual DNA +ve.

DNA -ve = Not FHOR Cholesterol ≥ 6.5 (treat now)OR Cholesterol ≤6.5

DNA +ve

Cholesterol ≥ 6.5

Letter to give to relatives1st 2nd 3rd degree.

Relatives seen in 1º CARE: own GP or Professional with Special Interest,

with counselling skills/for content

DNA +ve But Cholesterol ≤6.5

Long-Term Management2º CARE /shared care

Refer back to 1º CARE

Referral to normal CVD risk assessment: 5yr call/recall

Specialist Review

not normal CVD Risk Assessment

Communicating FH test results

• N=430 telephone interview (75% agreed)• 93% wished to know result

• - 33% found anonymity of index case unacceptable

• 91% want to be told by relative• Women aged 18-54

• 77% want to be told by health clinic• 93% want to have children screened

Maxwell SJ et al; Gen Test Mol Biomarker 2009; 13 : 301-6

Response to screening results

Maxwell SJ et al; Gen Test Mol Biomarker 2009; 13 : 301-6

Information and contact methods

Maxwell SJ et al; Gen Test Mol Biomarker 2009; 13 : 301-6

Cascade Testing Pathway

▪Random Cholesterol▪DNA test for known family mutation (mouth

swab)

FH Index Individual DNA +ve.

DNA -ve = Not FHOR Cholesterol ≥ 6.5 (treat now)OR Cholesterol ≤6.5

DNA +ve

Cholesterol ≥ 6.5

Letter to give to relatives1st 2nd 3rd degree.

Relatives seen in 1º CARE: own GP or Professional with Special Interest,

with counselling skills/for content

DNA +ve But Cholesterol ≤6.5

Long-Term Management2º CARE /shared care

Refer back to 1º CARE

Referral to normal CVD risk assessment: 5yr call/recall

Specialist Review

not normal CVD Risk Assessment

Assumptions on FH prevalences

Criteria GP N PCT

100% 12,100 290400

FHx IHD< 60 8% 968 23232

ScreeneesTC/IHD/Rx/Dx

3% 363 8712

FH Definite 0.20% 20 480

FH Possible (hi) 0.40% 47 1128

FH possible (lo) 2% 216 5184

Baseline population PCT

300,000 100%

TC> 7.5 30000 10.00%

FHx IHD 30%

FHx IHD <60 3000 10%

cIMT > 0.8mm @40 1500 50%

Real FH 600 0.02%

Known = 15% 90

Unknown 510

Gray J et al; Heart 2008; 94: 754-8

Potential costs

Item Cost (£) Number 1 year

Polyclinic review £50 600 30000

Lipid clinic review £200 300 60000

CIMT £50 400 20000

Lp(a) £12 600 7200

Genotyping- index £250 200 50000

Genotyping family £50 400 20000

Nurse grade 7 0.5WTE £40,000 40000

£187200

Item Cost Number 1 year

Polyclinic review £50 1133 56640

Lipid clinic review £200 322 64320

CIMT £50 322 16080

Lp(a) £12 322 3859

Genotyping- index £400 96 38400

Genotyping family £60 355 21312

Nurse grade 7 0.5WTE £40,000 40000

£240611

Model 1 Prevalences: Gray et al Modle 2 Prevalences: Assumed