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Table 1 DLCN Diagnostic Criteria for FH

From: The genetics and screening of familial hypercholesterolaemia

Group 1: Family History Points
     i. First-degree relative with premature CHDa 1
     ii. First-degree relative with LDL-C > 95th percentile by age, gender for country 1
     iii. First-degree relative with tendinous xanthomata and/or arcus cornealis 2
     iv. Children under 18 years with LDL-C > 95th percentile by age, gender for country 2
Group 2: Clinical History Points
     i. Premature CHD 2
     ii. Premature cerebrovascular or peripheral vascular disease 1
Group 3: Physical Examination Points  
     i. Tendinous xanthomata 6
     ii. Arcus cornealis prior to 45 years 4
Group 4: LDL-C Levels Points
     i. LDL-C > 8.5 mmol/l (~330 mg/dl) 8
     ii. LDL-C 6.5-8.4 mmol/l (~250-329 mg/dl) 5
     iii. LDL-C 5.0-6.4 mmol/l (~190-249 mg/dl) 3
     iv. LDL-C 4.0-4.9 mmol/l (~155-189 mg/dl) 1
Group 5: DNA Analysis Points  
     i. Causative mutation in the LDLR, ApoB or PCSK9 gene 8
Total Score: -
     Definite FH > 8 points
     Probable FH: 6–8 points
     Possible FH: 3–5 points
     Unlikely FH: 0–2 points
Genetic Testing For: -
     i. Patients with a score > 5 points
     ii. Patients with an obvious diagnosis of xanthomata with high cholesterol and a CHD family history
Causative Mutation Found: -
     Genetic testing for all first degree relatives
  1. aCHD Before age 55 (men), 60 (women)