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Table 1 Characteristics of the study population

From: Evaluation of glycemic status and subclinical atherosclerosis in familial hypercholesterolemia subjects with or without LDL receptor mutation

N

322

FH genotype

Monogenic FH, n (%)

248 (77.0)

 LDLR, n (%)

222 (89.5)

  LDLR defective, n (%)

137 (61.7)

  LDLR null, n (%)

85 (38.3)

 ApoB, n (%)

19 (7.7)

 PCSK9, n (%)

3 (1.2)

 ApoE, n (%)

4 (1.6)

Polygenic FH, n (%)

74 (23.0)

Monogenic FH phenotype

 Heterozygous, n (%)

266 (100)

Vascular profile

Subclinical atherosclerosis, n (%)

198 (61.5)

 CAC > 0, n (%)

148 (74.7)

 Peripheral plaque, n (%)

185 (93.4)

 CAC + Peripheral plaque, n (%)

73 (36.9)