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Table 2 DLCN (Dutch Lipid Clinic Network) scores for the proband and his first-degree relatives

From: LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL

Diagnostic criteria of the Dutch Lipid Clinic Network

 

Participant scores

 

Score

I1

I2

II1

II2

II3

III1

Family History

       

First-degree relative with known premature (< 55 years of age in men, < 60 years of age in women) coronary heart disease or first-degree relative with known low-density lipoprotein (LDL) cholesterol > 95th percentile by age and sex for country

1

0

1

1

2

2

1

First-degree relative with tendon xanthoma and/or arcus cornealis or children < 18 years of age with LDL cholesterol > 95th percentile by age and sex for country

2

Clinical History

       

Patient with premature coronary artery disease (age as above)

2

0

2

2

2

0

0

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

1

Physical Examination

       

Tendon Xanthomas

6

0

0

0

0

0

0

Arcus Cornelis at age ≤ 45 years

4

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

       

LDL-C ≥ 8.5 (330)

8

0

5

5

1

0

3

LDL-C 6.5–8.4 (250–329)

5

LDL-C 5.0-6.4 (190–249)

3

LDL-C 4.0-4.9 (155–189)

1

DNA analysis

       

DNA Analysis – functional mutation LDLR, APOB, and PCSK9

8

/

/

/

8

0

8

Total Score

 

0

8

8

13

2

12