Table 1.

DLCN Diagnostic Criteria for FH

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

^aCHD Before age 55 (men), 60 (women)