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Developing FH services in South West and South East London Anthony S. Wierzbicki Consultant in metabolic medicine/chemical pathology Guy’s & St Thomas’

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Presentation on theme: "Developing FH services in South West and South East London Anthony S. Wierzbicki Consultant in metabolic medicine/chemical pathology Guy’s & St Thomas’"— Presentation transcript:

1 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

2 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

3 NHS Vascular risk programme briefing packs ; ww.doh.gov.uk The NHS (Vascular) Health Check NHS Health Check

4 Lay knowledge of FH in families (Australia) Maxwell SJ et al; Gen Test Mol Biomarker 2009; 13 : 301-6

5 LDL-C distributions in FH and the general population Starr BA et al; CCLM 2008; 46 :

6 Changing mortality of CHD in the last century Definite FH (V408M) Possible FH (V408M) Population rate Based on Stallones RA; Sci Am 243; (11) 43 Sijbrands EJG et al; BMJ 2001; 322: 1019

7 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 ≥7.5 Lab. Notification to GP recheck full fasting lipids & FPG & Rule our 2 nd causes High Suspicion Group to be filtered (~1% of the pop) Simon Broome criteria SB(+) DNA / Genetic test FH Negative FH (+) 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)

8 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

9 FH: tendon xanthomata & risk Civiera F et al ; ATVB 2005; 25: Oosterveer DM et al ; Atherosclerosis 2009 in press

10 What Is Carotid Intima Media Thickness (CIMT)? Normal and Diseased Arterial Histology Mean CIMT mm

11 Tendon xanthomata & cIMT Jarauta E et al; Atherosclerosis 2008; 204: 345-7

12 cIMT in FH and controls deGroot E et al; Circulation 2004; 109 suppl III : FH Controls

13 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 ≥7.5 Lab. Notification to GP recheck full fasting lipids & FPG & Rule our 2 nd causes High Suspicion Group to be filtered (~1% of the pop) & cIMT screening out (eventually used at 1º CARE stage) DNA / Genetic test FH Negative FH 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)

14 Cascade Testing Pathway ▪Random Cholesterol ▪DNA test for known family mutation (mouth swab) FH Index Individual DNA +ve. DNA -ve = Not FH OR Cholesterol ≥ 6.5 (treat now) OR Cholesterol ≤6.5 DNA +ve Cholesterol ≥ 6.5 Letter to give to relatives 1 st 2 nd 3 rd 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 Management 2 º CARE /shared care Refer back to 1º CARE Referral to normal CVD risk assessment: 5yr call/recall Specialist Review not normal CVD Risk Assessment

15 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 % 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

16 Response to screening results Maxwell SJ et al; Gen Test Mol Biomarker 2009; 13 : 301-6

17 Information and contact methods Maxwell SJ et al; Gen Test Mol Biomarker 2009; 13 : 301-6

18 Cascade Testing Pathway ▪Random Cholesterol ▪DNA test for known family mutation (mouth swab) FH Index Individual DNA +ve. DNA -ve = Not FH OR Cholesterol ≥ 6.5 (treat now) OR Cholesterol ≤6.5 DNA +ve Cholesterol ≥ 6.5 Letter to give to relatives 1 st 2 nd 3 rd 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 Management 2 º CARE /shared care Refer back to 1º CARE Referral to normal CVD risk assessment: 5yr call/recall Specialist Review not normal CVD Risk Assessment

19 Assumptions on FH prevalences CriteriaGPNPCT 100%12, FHx IHD< 608% Screenees TC/IHD/Rx/Dx 3% FH Definite0.20%20480 FH Possible (hi)0.40% FH possible (lo)2% Baseline populationPCT 300,000100% TC> % FHx IHD30% FHx IHD < % cIMT > Real FH % Known = 15%90 Unknown510 Gray J et al; Heart 2008; 94: 754-8

20 Potential costs ItemCost (£)Number1 year Polyclinic review£ Lipid clinic review£ CIMT£ Lp(a)£ Genotyping- index£ Genotyping family£ Nurse grade 7 0.5WTE£40, £ ItemCostNumber1 year Polyclinic review£ Lipid clinic review£ CIMT£ Lp(a)£ Genotyping- index£ Genotyping family£ Nurse grade 7 0.5WTE£40, £ Model 1 Prevalences: Gray et alModle 2 Prevalences: Assumed


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