Table 1.
Clinical Profile of the Patient’s Family.
| Proband | First daughter | Second daughter | Son | |||||
|---|---|---|---|---|---|---|---|---|
| Age, y | 54 | 19 | 15 | 15 | ||||
| Body mass index , kg/m2 | 20.7 | 20.8 | 19.7 | 16.5 | ||||
| Achilles tendon thickening | yes | no | no | yes | ||||
| Total cholesterol, mg/dL | 325 | 197 | 187 | 269 | ||||
| Triglycerides, mg/dL | 50 | 77 | 117 | 52 | ||||
| LDL cholesterol, mg/dL | 246 | 104 | 113 | 203 | ||||
| HDL cholesterol, mg/dL | 64 | 75 | 58 | 55 | ||||
| Lp(a), mg/dL | 9 | ND | 3 | 3 | ||||
| LDL receptor gene | p.Val827SerfsTer102 | ND | Wild type | p.Val827SerfsTer102 | ||||
| PCSK 9 gene | p.Ser668Arg | ND | p.Ser668Arg | p.Ser668Arg | ||||
| p.Val644Ile |
ND: not done, Second daughter and Son were fraternal twins.