Developing FH services in
South West and South East
London
Anthony S. Wierzbicki
Consultant in metabolic medicine/chemical pathology
Guy’s & St Thomas’ Hospitals
London
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
The NHS (Vascular) Health Check
Vascular
NHS Checks
HealthProgramme
Check
Risk assessment
Communication of risk
Risk Management
Initially, PCTs decide which people to call first and
where the checks can be accessed (e.g. General
Practice, pharmacy etc) bearing in mind the need to
tackle health inequalities.
Behaviour change
tool e.g. Mid Life
LifeCheck
Gender
Smoking status
Sign post
or refer to life
style
interventions
Physical activity
Family history
Ethnicity
Cholesterol test
Risk
Assessment
Raised blood
pressure
Diabetes filter
• BMI
• BP measure
IFG/IGT lifestyle
management advice
DM
Statins prescription
offered*
If CVD risk assessed as >20%
^People recalled to separate
appointments for diagnosis
Serum Creatinine^
CKD assessment
eGFR Low
NHS Vascular risk programme briefing packs ; ww.doh.gov.uk
EXIT
*or professionals with suitable patient
information and prescribing rights
EXIT
Anti-hypertensives
prescription *
CKD
register
High
Hypertension
register
Assessment for
hypertension^
RECALL
EXIT
EXIT
Diabete High Risk
s
annual
register reviews
Oral Glucose
Tolerance test^
FPG/HbA1c
All to be undertaken by GP
Practice Team
IGT: Impaired Glucose
Tolerance
Weight management
on referral
IFG/IGT
If blood sugar high
IFG: Impaired Fasting
Glucose
NHS stop smoking
services referral
Exercise on
prescription or other
physical activity
intervention
Body Mass Index
If at risk
DM: Diabetes Mellitus
eGFR: estimated
Glomerular Filtration Rate
Age
BP Measure
Key:
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
Definite FH
(V408M)
5
CHD mortality (deaths/10 )
300
250
Possible FH
(V408M)
200
150
Population
rate
100
50
0
1870
1910
1950
Date
Based on Stallones RA; Sci Am 243; (11) 43
Sijbrands EJG et al; BMJ 2001; 322: 1019
1990
FH Pathway : NICE CG71
1º CARE
(NHS Health Check)
Cholesterol ≥7.5
Lab. Notification to GP recheck full fasting lipids & FPG & Rule our 2nd causes
TC ≥ 7.5 with family history of CVD (1st ° relative CVD < 60 yrs old) = High suspicion group (about 2% of the pop)
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 up into 2º CARE (as possible FH)
50% will be
referred back to
GP (non FH) to
continue with
normal CVD risk
assessment.
High Suspicion Group to be filtered (~1% of the pop)
Simon Broome criteria
SB(+) DNA / Genetic test
FH (+) or clinical (+) DNA (-)
but high suspicion
SB (-) No DNA / Genetic test
FH Negative
Managed pathway back to
1 º CARE
Long Term Management i.e. FH Positive/ Negative but high suspicion
Info provided for relatives for Cascade Testing
(see separate pathway)
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)
Long term management of children <16
in paediatric setting with
transition protocol to adult services
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 Media
Thickness (CIMT)?
Normal and Diseased
Arterial Histology
Mean CIMT 1.174 mm
Tendon xanthomata & cIMT
Jarauta E et al; Atherosclerosis 2008; 204: 345-7
cIMT in FH and controls
FH
Controls
deGroot E et al; Circulation 2004; 109 suppl III : 33-38
FH Pathway
1º CARE
(NHS Health Check)
Cholesterol ≥7.5
Lab. Notification to GP recheck full fasting lipids & FPG & Rule our 2nd causes
TC ≥ 7.5 with family history of CVD (1st ° relative CVD < 60 yrs old)
= High suspicion group (about 2% of the pop)
or
TC ≥ 9 no family history
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 up into 2º CARE (as possible FH)
50% will be
referred back to
GP (non FH) to
continue with
normal CVD risk
assessment.
High Suspicion Group to be filtered (~1% of the pop)
& cIMT screening out (eventually used at 1º CARE stage)
Simon B Criteria
DNA / Genetic test
FH Positive/
Negative but high suspicion
No DNA / Genetic test
FH Negative
Managed pathway back to
1 º CARE
Long Term Management i.e. FH Positive/ Negative but high suspicion
Info provided for relatives for Cascade Testing
(see separate pathway)
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)
Long term management of children <16
in paediatric setting with
transition protocol to adult services
Cascade Testing Pathway
FH Index Individual
DNA +ve.
Letter to give to relatives
1st 2nd 3rd degree.
Relatives seen in 1º CARE:
own GP or Professional with Special Interest,
with counselling skills/for content
▪Random Cholesterol
▪DNA test for known family mutation (mouth
swab)
DNA -ve = Not FH
OR Cholesterol ≥ 6.5 (treat now)
OR Cholesterol ≤6.5
DNA +ve
But Cholesterol ≤6.5
DNA +ve
Cholesterol ≥ 6.5
Refer back to 1º CARE
Referral to normal CVD risk
assessment: 5yr call/recall
Specialist Review
not normal CVD Risk Assessment
Long-Term Management
2º CARE /shared care
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
FH Index Individual
DNA +ve.
Letter to give to relatives
1st 2nd 3rd degree.
Relatives seen in 1º CARE:
own GP or Professional with Special Interest,
with counselling skills/for content
▪Random Cholesterol
▪DNA test for known family mutation (mouth
swab)
DNA -ve = Not FH
OR Cholesterol ≥ 6.5 (treat now)
OR Cholesterol ≤6.5
DNA +ve
But Cholesterol ≤6.5
DNA +ve
Cholesterol ≥ 6.5
Refer back to 1º CARE
Referral to normal CVD risk
assessment: 5yr call/recall
Specialist Review
not normal CVD Risk Assessment
Long-Term Management
2º CARE /shared care
Assumptions on FH
prevalences
Criteria
FHx IHD< 60
Screenees
TC/IHD/Rx/Dx
GP
N
PCT
100%
12,100
290400
8%
968
23232
3%
363
8712
FH Definite
0.20%
20
480
FH Possible (hi)
0.40%
47
1128
FH possible (lo)
2%
216
5184
Gray J et al; Heart 2008; 94: 754-8
Baseline population
TC> 7.5
PCT
300,000
100%
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
Potential costs
Item
Cost
Number
1 year
Item
Polyclinic review
£50
1133
56640
Lipid clinic review
£200
322
CIMT
£50
Lp(a)
Cost (£)
Number
1 year
Polyclinic review
£50
600
30000
64320
Lipid clinic review
£200
300
60000
322
16080
CIMT
£50
400
20000
£12
322
3859
Lp(a)
£12
600
7200
Genotyping- index
£400
96
38400
Genotyping- index
£250
200
50000
Genotyping family
£60
355
21312
Genotyping family
£50
400
20000
40000
Nurse grade 7
0.5WTE
Nurse grade 7
0.5WTE
£40,000
£40,000
£240611
Model 1 Prevalences: Gray et al
40000
£187200
Modle 2 Prevalences: Assumed