Table 1: Clinical Criteria for the Diagnosis of Heterozygous Familial Hypercholesterolaemia from the Dutch Lipid Clinic Network.
Family history | Score | |
1. First-degree relative with premature coronary heart disease or 2. First-degree relative with LDL cholesterol >95th percentile by age and gender for country 3. First-degree relative with xanthoma and/or arcus cornealis or 4. Children <18 years with LDL cholesterol >95th percentile by age and gender for country |
1 1 2 2 |
|
Clinical history | ||
1. Premature coronary heart disease 2. Premature cerebral or peripheral vascular disease |
2 1 |
|
Physical examination | ||
1. Tendon xanthoma 2. Arcus cornealis <45 years |
6 4 |
|
LDL cholesterol | ||
1. >8.5 mmol/l 2. 6.5–8.4 mmol/l 3. 5.0–6.4 mmol/l 4. 4.0–4.9 mmol/l |
8 5 3 1 |
|
DNA analysis | ||
1. Causative mutation in LDLR, APOB or PCSK9 | 8 | |
Clinical diagnosis | ||
Definite Probable Possible Unlikely |
>8 6–8 3–5 <3 |
Source: Nordestgaard et al., 2018.[7] Published with permission from Oxford University Press.