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Table 1 The DLCN scores of participants in this family

From: In vitro assessment of the pathogenicity of the LDLR c.2160delC variant in familial hypercholesterolemia

Dutch Lipid Clinic Network Criteria

Participants scores

Criteria

Score

I-1

I-2

II-1

II-2

II-3

III-1

Family History

       

First-degree relative with premature coronary and/or vascular disease (men ≤ 55 years, women ≤ 60 years), OR

1

2

2

2

2

2

2

First-degree relative with known LDL-cholesterol ≥ 95th percentile for age and sex

1

First-degree relative with tendon xanthomata and/or arcus cornelis, OR

2

Children aged ≤ 18 years with known LDL-cholesterol ≥ 95th percentile for age and sex

2

Clinical History

       

Patient with premature coronary artery disease (age as above)

2

1

0

0

2

0

0

Patient with premature cerebral or peripheral vascular disease (age as above)

1

Physical Examination

       

Tendon Xanthomas

6

4

0

0

4

0

0

Arcus Cornelis at age ≤ 45 years

4

LDL Cholesterol (mmol/L) (mg/dL)

       

LDL-C ≥ 8.5 (330)

8

      

LDL-C 6.5–8.4 (250–329)

5

5

0

0

5

0

5

LDL-C 5.0-6.4 (190–249)

3

      

LDL-C 4.0-4.9 (155–189)

1

      

DNA Analysis – functional mutation LDLR, APOB and PCSK9

8

/

/

/

8

0

8

Total Score

12

2

2

21

2

15

  1. /means unknown. The highest score was awarded to each group