Table 3.
Dutch lipid network criteria on the diagnosis of heterozygous familial hypercholesterolemia4
| Criteria | Points |
|---|---|
| Family history | |
| First-degree relative with known premature* coronary and vascular disease, OR First-degree relative with known LDL-C level above the 95th percentile | 1 |
| First-degree relative with tendinous xanthomata and/or arcus cornealis OR Children aged less than 18 years with LDL-C level above the 95th percentile | 2 |
| Clinical history | |
| Patient with premature* coronary artery disease | 2 |
| Patient with premature* cerebral or peripheral vascular disease | 1 |
| Physical examination | |
| Tendinous xanthomata | 6 |
| Arcus cornealis prior to age 45 years | 4 |
| Cholesterol levels in mg/dl (mmol/liter) | |
| LDL-C ≥330 mg/dL (≥8.5) | 8 |
| LDL-C 250 – 329 mg/dL (6.5–8.4) | 5 |
| LDL-C 190 – 249 mg/dL (5.0–6.4) | 3 |
| LDL-C 155 – 189 mg/dL (4.0–4.9) | 1 |
| DNA analysis | |
| Functional mutation in the LDLR,b apo Bc or PCSK9d gene | 8 |
|
Diagnosis (diagnosis is based on the total number of points obtained) | |
| Definite familial hypercholesterolemia | >8 |
| Probable familial hypercholesterolemia | 6-8 |
| Possible familial hypercholesterolemia | 3-5 |
| Unlikely familial hypercholesterolemia | <3 |
*
Premature: ≤55 years in men; <60 years in women; LDL-C, low density lipoprotein cholesterol; FH, familial hypercholesterolemia; LDLR, low density lipoprotein receptor; Apo B, apolipoprotein B; PCSK9, proprotein convertase subtilisin/kexin type 9.