From: LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL
Diagnostic criteria of the Dutch Lipid Clinic Network | Participant scores | ||||||
---|---|---|---|---|---|---|---|
Score | I1 | I2 | II1 | II2 | II3 | III1 | |
Family History | |||||||
First-degree relative with known premature (< 55 years of age in men, < 60 years of age in women) coronary heart disease or first-degree relative with known low-density lipoprotein (LDL) cholesterol > 95th percentile by age and sex for country | 1 | 0 | 1 | 1 | 2 | 2 | 1 |
First-degree relative with tendon xanthoma and/or arcus cornealis or children < 18 years of age with LDL cholesterol > 95th percentile by age and sex for country | 2 | ||||||
Clinical History | |||||||
Patient with premature coronary artery disease (age as above) | 2 | 0 | 2 | 2 | 2 | 0 | 0 |
Patient with premature cerebral or peripheral vascular disease (age as above) | 1 | ||||||
Physical Examination | |||||||
Tendon Xanthomas | 6 | 0 | 0 | 0 | 0 | 0 | 0 |
Arcus Cornelis at age ≤ 45 years | 4 | ||||||
LDL Cholesterol (mmol/L) (mg/dL) | |||||||
LDL-C ≥ 8.5 (330) | 8 | 0 | 5 | 5 | 1 | 0 | 3 |
LDL-C 6.5–8.4 (250–329) | 5 | ||||||
LDL-C 5.0-6.4 (190–249) | 3 | ||||||
LDL-C 4.0-4.9 (155–189) | 1 | ||||||
DNA analysis | |||||||
DNA Analysis – functional mutation LDLR, APOB, and PCSK9 | 8 | / | / | / | 8 | 0 | 8 |
Total Score | 0 | 8 | 8 | 13 | 2 | 12 |