The Wales FH Cascade Testing Initiative Dr Ian McDowell

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Scoring Criteria for patients with possible Familial Hypercholesterolaemia Please note these criteria only apply for index cases, not famil y members of known genotype positive patients. Family History Physical Examination Lipid Lowering Treatment Untreated or corrected LDL- Cholesterol Concentrations (mmol/l) Fasting Triglycerides (mmol/l) •First degree relative (FDR) known with premature ( 5mmol/l •FDR with tendon xanthomata and/or corneal arcus (< 45yrs) •FDR ( 3.5mmol/l •Tendon xanthomata •Corneal arcus (< 45yrs) •Is patient on lipid lowering treatment? YES / NO oIf NO, go to Untreated LDL- Cholesterol Concentrations oIf YES, give details …………………………………… If untreated LDL-C values are unobtainable see attached sheet (Correction Factor Table) and calculate estimated value. •LDL-C > 8.5 •LDL-C 6.5 – 8.4 •LDL-C 5.0 – 6.4 •LDL-C 4.0 – 4.9 •Tg 2.5 – 3.5 •Tg 3.5 – 5 •Tg > 5 Points minus 2 minus 3 minus 4 Proband eligibility for <strong>FH</strong> genotyping is based on total points score Only one score from each box >8 usually eligible for genotyping 6-8 eligible if funding available 5 or less usually not unless exceptional circumstances Forms which are unclear, incomplete or not eligible for genotyping will be returned to the requesting clinician and the sample stored for X months for possible future use. 1 1 2 2 6 4 8 5 3 1
Familial hypercholesterolaemia Implementing NICE guidance 2008 NICE clinical guideline 71
Page 1 and 2: The Wales FH Cascade Testing Initia
Page 4 and 5: Wales FH Special Interest Group Bri
Page 6 and 7: Cardiff - Bridgend Cascade Testing
Page 8 and 9: National Screening Program Familial
Page 10 and 11: Key Features 1. Pedigree drawing fu
Page 12 and 13: Patient Pathway with Cascade Testin
Page 19 and 20: FH Cascade Programme for Wales Part
Page 21: Thank You!

The Wales FH Cascade Testing Initiative Dr Ian McDowell

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