Table 1 The clinical characteristics of the probands.

From: The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia

 

Index

All Probands (n = 20)

General characteristics

Age (Years)

14.8 ± 8.8

Male (n,%)

10 (50%)

Origin (n,%)

South (12, 60%)

Xanthoma (n,%)

20 (100%)

Corneal arcus (n,%)

17 (85%)

Chief complaint (n,%)

Xanthoma (16, 80%)

 

Smoking (n,%)

3 (15%)

History

CAD (n,%)

3 (15%)

DM (n,%)

0 (0%)

Ultrasound

MR (n,%)

10 (50%)

AR (n,%)

11 (55%)

AC (n,%)

15 (75%)

IMT (cm)

0.18?±?0.05

CVFR

2.19?±?0.49

Lipids before treatment

TC (mmol/L)

16.1 ± 2.9

LDL-C (mmol/L)

13.2 ± 2.4

TG (mmol/L)

1.5 ± 0.6

HDL (mmol/L)

1.9 ± 0.9

Initial treatment

Statin

18 (90%)

Statin + Ezetimibe

4 (20%)

Xuezhikang

1 (5%)

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