Developing FH services in South West and South East London
description
Transcript of Developing FH services in South West and South East London
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
All to be undertaken by GP Practice Team
Initi
ally
, PC
Ts
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irst
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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
0
50
100
150
200
250
300
1870 1910 1950 1990Date
CH
D m
ort
ality
(d
ea
ths
/10
5)
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