Table 1.
Criterion1 | Points |
---|---|
Family history | |
First-degree relative with known premature (<55 years, men; <60 years, women) CHD or First-degree relative with known LDL cholesterol >95th percentile by age and sex for country | 1 |
First-degree relative with tendon xanthoma and/or corneal arcus or Child(ren) <18 years with LDL cholesterol >95th percentile by age and sex for country | 2 |
Clinical history | |
Subject has premature (<55 years, men; <60 years, women) CHD | 2 |
Subject has premature (<55 years, men; <60 years, women) cerebral or peripheral vascular disease | 1 |
Physical examination | |
Tendon xanthoma | 6 |
Corneal arcus in a person <45 years | 4 |
Biochemical results (LDL-cholesterol) | |
>8.5 mmol/L (>325 mg/dL) | 8 |
6.5–8.4 mmol/L (251–325 mg/dL) | 5 |
5.0–6.4 mmol/L (191–250 mg/dL) | 3 |
4.0–4.9 mmol/L (155–190 mg/dL) | 1 |
Molecular genetic testing (DNA analysis) | |
Causative mutation shown in the LDLR, APOB, or PCSK9 genes | 8 |
Notes: >8 points: definite FH; 6–8 points: probable FH; 3–5 points: possible FH. The APOB and PCSK9 genes were added to the genetic testing.
Abbreviations: FH, familial hypercholesterolemia; CHD, coronary heart disease; LDL, low-density lipoprotein; DNA, deoxyribonucleic acid; LDLR, LDL receptor; APOB, apolipoprotein B; PCSK9, proprotein convertase subtilisin/kexin type 9.