Family history | n (%) | |
---|---|---|
First-degree relative with known premature (men aged < 55 years; women < 60 years) coronary or vascular disease (1 point) | 61 (51.7%) | |
First-degree relative with known LDL above the 95th percentile (1 point) | 91 (77.1%) | |
First-degree relative with tendinous xanthomata and/or arcus cornealis (2 points) | 11 (9.3%) | |
Children aged < 18 years with LDL above the 95th percentile (2 points) | 50 (42.4%) | |
Clinical history | ||
Patient with premature (men aged < 55 years; women < 60 years) coronary artery disease (2 points) | 17 (14.4%) | |
Patient with premature (men aged < 55 years; women < 60 years) cerebral or peripheral vascular disease (1 point) | 5 (4.2%) | |
Physical examination | ||
Tendinous xanthomata (6 points) | 11 (9.3%) | |
Arcus cornealis before age 45 years (4 points) | 6 (5.1%) | |
LDL-C levels (without treatment) | ||
LDL ≥ 8.5 mmol/L (≥ 330 mg/dL) (8 points) | 8 (6.8%) | |
LDL 6.5–8.4 mmol/L (250–329 mg/dL) (5 points) | 42 (35.6%) | |
LDL 5.0–6.4 mmol/L (190–249 mg/dL) (3 points) | 41 (34.7%) | |
LDL 4.0–4.9 mmol/L (155–189 mg/dL) (1 point) | 22 (18.6%) | |
LDL < 4.0 mmol/L (< 155 mg/dL) (0 point) | 5 (4.2%) | |
DNA analysis | ||
Functional mutation in the LDLr, apoB or PCSK9 genes (8 points) | 33 (27.9%) | |
FH diagnosis | ||
Definite FH (> 8 points) | 51 (43.2%) | |
Probable FH (6–8 points) | 40 (33.9%) | |
Possible FH (3–5 points) | 23 (19.5%) | |
Unlikely FH (0–2 points) | 4 (3.4%) |