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Developing FH services in South West and South East London

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

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Developing FH services in South West and South East London

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

  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 : 791-803

  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 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 SB (-) No DNA / Genetic test Managedpathway back to 1 º CARE FH (+) or clinical (+)DNA (-) but high suspicion FH Negative 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. Long term management of children <16 in paediatric setting with transition protocol to adult services 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: 1960-5 Oosterveer DM et al ; Atherosclerosis 2009 in press

  10. Mean CIMT 1.174 mm What Is Carotid Intima MediaThickness (CIMT)? Normal and DiseasedArterial Histology

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

  12. cIMT in FH and controls FH Controls deGroot E et al; Circulation 2004; 109 suppl III : 33-38

  13. 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) or TC ≥ 9 no family history = 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) & cIMT screening out (eventually used at 1º CARE stage) Simon B Criteria DNA / Genetic test No DNA / Genetic test Managedpathway back to 1 º CARE FH Positive/ Negative but high suspicion FH Negative 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. Long term management of children <16 in paediatric setting with transition protocol to adult services Shared Care + Register of FH (kept in 2º CARE)

  14. 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 Long-Term Management 2º CARE /shared care Specialist Review not normal CVD Risk Assessment Referral to normal CVD risk assessment: 5yr call/recall

  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 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

  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 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 Long-Term Management 2º CARE /shared care Specialist Review not normal CVD Risk Assessment Referral to normal CVD risk assessment: 5yr call/recall

  19. Assumptions on FH prevalences Gray J et al; Heart 2008; 94: 754-8

  20. Potential costs Model 1 Prevalences: Gray et al Modle 2 Prevalences: Assumed

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