Table 3.
Gentoype/phenotype of all patients with LDLR and/or LDLRAP1 variants
| Genotype | N | % | LDL (mg/dL) (average ± SD) | XO | XA | LDL apheresis |
|---|---|---|---|---|---|---|
| No mutation | 6 | 13.6 | 150 ± 22 | 1/6 | 0/6 | 0/6 |
| LDLRAP hetero Q136* | 11 | 25.0 | 184 ± 116 | 0/11 | 0/11 | 1/11 |
| LDLRAP homo Q136* | 9 | 20.5 | 391 ± 95 | 7/9 | 3/9 | 5/9 |
| LDLR hetero A391T | 3 | 6.8 | 156 | 0/3 | 0/3 | 0/3 |
| LDLR hetero C681* | 5 | 11.4 | 242 ± 88 | 1/5 | 1/5 | 0/5 |
| LDLR homo C681* | 1 | 2.3 | 189 | 0/1 | 0/1 | 0/1 |
| LDLRAP hetero Q136* + LDLR hetero C681* | 2 | 4.5 | 238 ± 134 | 1/2 | 0/2 | 0/2 |
| LDLRAP hetero Q136* + LDLR homo C681* | 1 | 2.3 | 497 | 1/1 | 1/1 | 0/1 |
| LDLRAP hetero Q136* + LDLR hetero A391T | 4 | 9.1 | 174 ± 11 | 0/4 | 0/4 | 0/4 |
| LDLRAP homo Q136* + LDLR hetero A391T | 1 | 2.3 | 582 | 1/1 | 0/1 | 1/1 |
| LDLR hetero C681* + LDLR hetero A391T + LDLRAP hetero Q136* | 1 | 2.3 | 304 | 0/1 | 0/1 | 0/1 |
LDLR, low‐density lipoprotein cholesterol receptor; LDLRAP1, LDLR‐associated protein; LDL, low‐density lipoprotein; XO, xanthomas; XA, xanthelasmas; SD, standard deviation.