The Dutch Lipid Clinic Network diagnostic criteria for familial hypercholesterolemia
Criteria | Points |
---|---|
Family history | |
First-degree relative with known premature atherosclerotic cardiovascular disease (age < 55 in men, age < 60 in women) or first-degree relative with LDL-C > 95th percentile | 1 |
First-degree relative with tendon xanthomas or arcus cornealis, or child under age 18 with LDL-C > 95th percentile | 2 |
Clinical history | |
Premature coronary artery disease | 2 |
Premature cerebral or peripheral vascular disease | 1 |
Physical examination | |
Tendon xanthomas | 6 |
Arcus cornealis before age 45 | 4 |
LDL-C levels, mg/dL | |
≥ 330 | 8 |
250–329 | 5 |
190–249 | 3 |
155–189 | 1 |
DNA analysis | |
Functional mutation in the LDLR, APOB, or PCSK9 gene | 8 |
Interpretation | Total |
Definite familial hypercholesterolemia | > 8 |
Probable familial hypercholesterolemia | 6–8 |
Possible familial hypercholesterolemia | 3–5 |
Unlikely familial hypercholesterolemia | < 3 |
From the World Health Organization, reference 24.