Table 4. Clinical characteristics and mutations of probands with homozygous FH (N = 14) .
| Patient No. | 1 | 2 | 3 | 4 | 5 | 6 | 7 |
|---|---|---|---|---|---|---|---|
| Age | 34 | 64 | 48 | 45 | 48 | 63 | 65 |
| Sex | F | F | M | M | F | F | M |
| TC (mg/dL) | 583 | 442 | 377 | 517 | 420 | 448 | 550 |
| LDL-C (mg/dL) | 467 | 354 | 306 | 432 | 308 | 322 | 362 |
| HDL-C (mg/dL) | 57 | 32 | 40 | 37 | 40 | 57 | 93 |
| TG (mg/dL) | 88 | 111 | 229 | 241 | 150 | 162 | 81 |
| Xanthoma | Y | N | N | Y | N | N | N |
| CVD | N | Y | N | N | Y | N | Y |
| Mutations | P685L |
R257W＋D589N IVS3＋3 A＞TA |
H583Y |
R257W＋D589N IVS4＋2 T＞C |
D90N APOB- R3527W |
G478R F200C |
D90N APOB-R3527W |
| FH classification | Simple | Compound | Simple | Compound | Double | Compound | Double |
| Genetic tests | MS | MS | MS | MS+NGS | MS | MS | MS |
| Patient No. | 8 | 9 | 10 | 11 | 12 | 13 | 14 |
| Age | 46 | 31 | 32 | 25 | 45 | 74 | 50 |
| Sex | M | M | M | M | M | M | F |
| TC (mg/dL) | 313 | 474 | 285 | 322 | 369 | 416 | 352 |
| LDL-C (mg/dL) | 210 | 382 | 235 | 276 | 265 | 316 | 301 |
| HDL-C (mg/dL) | 45 | 49 | 39 | 27 | 35 | 54 | 26 |
| TG (mg/dL) | 112 | 53 | 137 | 71 | 348 | 319 | 145 |
| Xanthoma | N | N | N | N | N | N | N |
| CVD | N | N | Y | Y | N | Y | N |
| Mutations | D90N I623V |
R257W＋D589N A431T＋I623V |
APOB-R3527W |
IVS2＋4 A＞T |
L339P I623V | R416W H583Y | IVS2＋4 A＞T |
| FH classification | Compound | Compound | Simple | Simple | Compound | Compound | Simple |
| Genetic tests | MS | MS | MS | MS | MS | MS | MS |
CVD, cardiovascular disease; HDL-C, high-density lipoprotein-cholesterol; LDL-C, low-density lipoprotein-cholesterol; MS, mass spectrometry; NGS, next generation sequencing; TC, total cholesterol; TG, triglyceride.