Table 2 Clinical characteristics of the FH group
From: Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation
Case | Age at diagnosis (years) | Height (cm) | Features of xanthomas | Chol (mmol/L) | LDL-c (mmol/L) | Hb (g/L) | PLT (×109/L) | MPV (fl.) | Gene sequences |
|---|---|---|---|---|---|---|---|---|---|
1 | 1.32 | 77.0 | â‘ â‘¡â‘£ | 29.4 | 21.02 | 126 | 316 | 9.00 | Compound heterozygous variants of LDLR, c.1241T>G, p. (Leu414Arg), from mother, c.1327T>C, p. (Trp443Arg), from father. |
2 (Twin of case 1) | 1.32 | 77.2 | â‘ â‘£ | 27.3 | 19.7 | 124 | 354 | 8.90 | Compound heterozygous variants of LDLR, c.1241T>G, p. (Leu414Arg), from mother, c.1327T>C, p. (Trp443Arg), from father. |
3 | 10.11 | 134.0 | â‘ â‘¡â‘¢ | 18.7 | 15.95 | 132 | 284 | 8.60 | Compound heterozygous variants of LDLR, c.1241T>G, p. (leu414Arg), from father, c.1073G>T, p. (Cys358Phe), from mother. |
4 (Younger sister of case 3) | 3.12 | 98.0 | â‘ â‘¡ | 17.4 | 14.25 | 112 | 289 | 9.10 | Compound heterozygous variants of LDLR, c.1241T>G, p. (leu414Arg), from father, c.1073G>T, p. (Cys358Phe), from mother. |
5 | 5.47 | 104.3 | â‘ â‘¡ | 16.12 | 14.14 | 116 | 372 | 8.80 | Compound heterozygous variants of LDLR, c.681 C>G, p. (Asp227Glu), from mother, c.1241T>G, p. (Leu414Arg), from father. |
6 | 12.24 | 152.2 | â‘ â‘¡ | 8.2 | 6 | 125 | 216 | 10.10 | Compound heterozygous variants of LDLR, c.226>G, p. (Gly76Arg), from mother, c.1474G>A, p. (Asp492Asn), from father. |
7 | 7.29 | 120.1 | â‘ â‘¡ | 19.53 | 13.5 | 132 | 243 | 10.80 | Homozygous variants of LDLR, c.2389G>A, p. (Val97Met), from mother and father, respectively. |
8 | 8.47 | 127.4 | â‘ â‘¡ | 17.5 | 14.34 | 139 | 239 | 8.90 | Compound heterozygous variants of LDLR, c.888 C>A, p. (Cys96*), from father, c.1198T>A, p. (Tyr 400Asn), from mother. |
9 | 13.35 | 162.0 | â‘ â‘¡ | 15.8 | 14.56 | 148 | 260 | 11.30 | Compound heterozygous variants of LDLR, c.482T>C, from father, c.827G>A, from mother. |
10 | 7.44 | 113.0 | â‘ â‘¡ | 16.6 | 12.36 | 130 | 332 | 8.90 | Compound heterozygous variants of LDLR, c.1241T>G, p. (Leu414Arg), c.681 C>G, p.(Asp227Glu) |
Reference range | 2.90–5.17 | 2.07–3.36 | 100–300 | 9.00–13.00 | Compound heterozygous variants of LDLR, c.1241T>G, p. (Leu414Arg), from father, c.681 C>G, p. (Asp227Glu), from mother. |