Table 10b.
Dutch Lipid Clinic Network diagnostic criteria for Familial Hypercholesterolemia [[181], [182], [183]].
| Points | |
|---|---|
| Criteria | |
| Family history | |
| First-degree relative with known premature∗ coronary and vascular disease, OR | 1 |
| First-degree relative with known LDL-C level above the 95th percentile | |
| First-degree relative with tendinous xanthomata and/or arcus cornealis, OR | 2 |
| Children aged less than 18 years with LDL-C level above the 95th percentile | |
| 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 |
| Untreated cholesterol levels 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, apo B or PCSK9 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 |
LDL-C = low - density lipoprotein cholesterol.
DNA = Deoxynucleic acid.
LDL-R = low - density lipoprotein receptor.
Apo B = apolipoprotein B.
PCSK9 = Proprotein convertase subtilisin/kexin type 9.
Premature coronary and vascular disease = < 55 years in men; < 60 years in women.