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Table 3 Dutch Lipid Clinic Network items frequencies

From: Referral rate, profile and degree of control of patients with familial hypercholesterolemia: data from a single lipid unit from a Mediterranean area

Family history

n (%)

First-degree relative with known premature (men aged < 55 years; women < 60 years) coronary or vascular disease (1 point)

61 (51.7%)

First-degree relative with known LDL above the 95th percentile (1 point)

91 (77.1%)

First-degree relative with tendinous xanthomata and/or arcus cornealis (2 points)

11 (9.3%)

Children aged < 18 years with LDL above the 95th percentile (2 points)

50 (42.4%)

Clinical history

Patient with premature (men aged < 55 years; women < 60 years) coronary artery disease (2 points)

17 (14.4%)

Patient with premature (men aged < 55 years; women < 60 years) cerebral or peripheral vascular disease (1 point)

5 (4.2%)

Physical examination

Tendinous xanthomata (6 points)

11 (9.3%)

Arcus cornealis before age 45 years (4 points)

6 (5.1%)

LDL-C levels (without treatment)

LDL ≥ 8.5 mmol/L (≥ 330 mg/dL) (8 points)

8 (6.8%)

LDL 6.5–8.4 mmol/L (250–329 mg/dL) (5 points)

42 (35.6%)

LDL 5.0–6.4 mmol/L (190–249 mg/dL) (3 points)

41 (34.7%)

LDL 4.0–4.9 mmol/L (155–189 mg/dL) (1 point)

22 (18.6%)

LDL < 4.0 mmol/L (< 155 mg/dL) (0 point)

5 (4.2%)

DNA analysis

Functional mutation in the LDLr, apoB or PCSK9 genes (8 points)

33 (27.9%)

FH diagnosis

Definite FH (> 8 points)

51 (43.2%)

Probable FH (6–8 points)

40 (33.9%)

Possible FH (3–5 points)

23 (19.5%)

Unlikely FH (0–2 points)

4 (3.4%)

  1. LDL: Low density lipoprotein cholesterol, LDLr: low-density lipoprotein receptor, apoB: Apolipoprotein B, PCSK9: proprotein convertase subtilisin/kexin type 9, DNA: deoxyribonucleic acid, FH: familial hypercholesterolaemia
  2. Items of the DLCN scale for the diagnosis of FH including family history, clinical history, physical examination, pre-treatment LDL cholesterol concentrations, and genetic study.In the right column, number and percentage of patients of the study who presented the item.