|
Score |
Family history |
First-degree relative with known premature coronary and/or vascular disease (men aged <55 years and women aged <60 years) or
First-degree relative with known low-density lipoprotein-cholesterol (LDL-C) above the 95th percentile for age and sex |
1 |
First-degree relative with tendinous xanthomata and/or arcus cornealis or
Children aged <18 years with LDL-C above the 95th percentile for age and sex |
2 |
Clinical history |
Patient with premature coronary artery disease (ages as above) |
2 |
Patient with premature cerebral or peripheral vascular disease (as above) |
1 |
Physical examination |
Tendinous xanthomata |
6 |
Arcus cornealis prior to 45 years of age |
4 |
LDL-C (mmol/L) |
|
LDL-C ≥8.5 |
8 |
LDL-C 6.5–8.4 |
5 |
LDL-C 5.0–6.4 |
3 |
LDL-C 4.0–4.9 |
1 |
Deoxyribonucleic acid (DNA) analysis: Functional mutation in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin type 9 (PCSK9) gene |
8 |
Stratification |
Total score |
Definite familial hypercholesterolaemia (FH) |
>8 |
Probable FH |
6-7 |
Possible FH |
3-5 |
Unlikely FH |
<3 |
ApoB, apolipoprotein B; DNA, deoxyribonucleic acid; FH, familial hypercholesterolaemia; LDL-C, low-density lipoprotein-cholesterol; LDLR, low-density lipoprotein receptor; PCSK9, proprotein convertase subtilisin/kexin type 9 |