developing fh services in south west and south east london

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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’ Hospitals London

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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’ Hospitals London. Statement of Interests. Member: HEART-Uk FH guideline implementation group - PowerPoint PPT Presentation

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  • Developing FH services in South West and South East LondonAnthony S. WierzbickiConsultant in metabolic medicine/chemical pathologyGuys & St Thomas HospitalsLondon

  • Statement of InterestsMember: 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 networkClinical Lead : Lipid & Obesity services GSTT

  • NHS Vascular risk programme briefing packs ; ww.doh.gov.ukThe NHS (Vascular) Health CheckNHS 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 populationStarr BA et al; CCLM 2008; 46 : 791-803

  • Changing mortality of CHD in the last centuryDefinite FH (V408M)Possible FH (V408M)PopulationrateBased on Stallones RA; Sci Am 243; (11) 43Sijbrands EJG et al; BMJ 2001; 322: 1019

    Chart1

    52.92.25

    65.227.2

    65.227.2

    76.098.4

    710.48.5

    710.48.5

    1217.927.5

    60106.8137.4

    120213.6274.8

    130231.4297.7

    135179.5244

    130172.9253.3

    11571208

    10046.596.7

    IHD

    FH-IHD

    FH-100

    Date

    CHD mortality (deaths/105)

    Sheet1

    DateIHDDateFH-IHDDateFH-100

    1870518702.918702.25

    1880618805.2218807.2

    1890618905.2218907.2

    1900719006.0919008.4

    19107191010.419108.5

    19207192010.419208.5

    193012193017.9193027.5

    1940601940106.81940137.4

    19501201950213.61950274.8

    19601301960231.41960297.7

    19701351970179.51970244

    19801301980172.91980253.3

    19901151990711990208

    2000100200046.5200096.7

    Sheet2

    Sheet3

  • 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)1 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 2 CARE (as possible FH)Cholesterol 7.5Lab. Notification to GP recheck full fasting lipids & FPG & Rule our 2nd causesHigh Suspicion Group to be filtered (~1% of the pop)Simon Broome criteria SB(+) DNA / Genetic testFH NegativeFH (+) or clinical (+) DNA (-) but high suspicionManaged pathway back to 1 CARE SB (-) No DNA / Genetic testLong Term Management i.e. FH Positive/ Negative but high suspicionInfo provided for relatives for Cascade Testing (see separate pathway) Long term management of children

  • FH tendon xanthomataN=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 & riskCiviera F et al ; ATVB 2005; 25: 1960-5Oosterveer DM et al ; Atherosclerosis 2009 in press

  • What Is Carotid Intima MediaThickness (CIMT)?Normal and Diseased Arterial Histology

  • Tendon xanthomata & cIMTJarauta E et al; Atherosclerosis 2008; 204: 345-7

  • cIMT in FH and controlsdeGroot E et al; Circulation 2004; 109 suppl III : 33-38FHControls

  • 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)1 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 2 CARE (as possible FH)Cholesterol 7.5Lab. Notification to GP recheck full fasting lipids & FPG & Rule our 2nd causesHigh Suspicion Group to be filtered (~1% of the pop) & cIMT screening out (eventually used at 1 CARE stage) DNA / Genetic testFH NegativeFH Positive/ Negative but high suspicionManaged pathway back to 1 CARE Simon B CriteriaNo DNA / Genetic testLong Term Management i.e. FH Positive/ Negative but high suspicionInfo provided for relatives for Cascade Testing (see separate pathway) Long term management of children

  • Cascade Testing Pathway Random CholesterolDNA test for known family mutation (mouth swab)FH Index Individual DNA +ve.DNA -ve = Not FHOR Cholesterol 6.5 (treat now)OR Cholesterol 6.5DNA +veCholesterol 6.5 Letter to give to relatives1st 2nd 3rd degree.Relatives seen in 1 CARE: own GP or Professional with Special Interest, with counselling skills/for content DNA +ve But Cholesterol 6.5Long-Term Management2 CARE /shared care

    Refer back to 1 CARE Referral to normal CVD risk assessment: 5yr call/recallSpecialist Review not normal CVD Risk Assessment

  • Communicating FH test resultsN=430 telephone interview (75% agreed)93% wished to know result- 33% found anonymity of index case unacceptable91% want to be told by relativeWomen aged 18-5477% want to be told by health clinic93% want to have children screenedMaxwell SJ et al; Gen Test Mol Biomarker 2009; 13 : 301-6

  • Response to screening resultsMaxwell SJ et al; Gen Test Mol Biomarker 2009; 13 : 301-6

  • Information and contact methodsMaxwell SJ et al; Gen Test Mol Biomarker 2009; 13 : 301-6

  • Cascade Testing Pathway Random CholesterolDNA test for known family mutation (mouth swab)FH Index Individual DNA +ve.DNA -ve = Not FHOR Cholesterol 6.5 (treat now)OR Cholesterol 6.5DNA +veCholesterol 6.5 Letter to give to relatives1st 2nd 3rd degree.Relatives seen in 1 CARE: own GP or Professional with Special Interest, with counselling skills/for content DNA +ve But Cholesterol 6.5Long-Term Management2 CARE /shared care

    Refer back to 1 CARE Referral to normal CVD risk assessment: 5yr call/recallSpecialist Review not normal CVD Risk Assessment

  • Assumptions on FH prevalencesGray J et al; Heart 2008; 94: 754-8

  • Potential costsModel 1 Prevalences: Gray et alModle 2 Prevalences: Assumed

    *Carotid intima-media thickness measured with B-mode ultrasonography is used as a noninvasive endpoint in epidemiologic studies and clinical trials to gauge progression and regression of atherosclerosis. As such, carotid intima-media thickness, expressed as a single measurement (in millimeters) or a rate of change (in millimeters per year), is used as a surrogate endpoint for atherosclerosis of the coronary artery. The measurement of intima media thickness is most simply performed in the carotid artery.The normal arterial wall consists of a muscular media and a monolayer intima. The measurement of IMT is the combined thickness of the arterial medial layer, and intimal layer as the 2 cannot be discriminated on ultrasound. As atherosclerosis develops, the increased intimal size is reflected as an increase in the combined media-intima thickness.

    ? Where do DNA +ve Chol 6.5 go ?? Where do DNA +ve Chol 6.5 go ?