Table 2.
Metabolic Parameters of Patients With GLPS as a Result of Heterozygous LMNA p.T10I Mutation
| Variables | Patient No. | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1.1 | 2.1 | 3.1 | 4.1 | 5.1 | 6.1 | 6.2 | 7.1 | 8.1 | 9.1 | 10.1 | |
| Triglycerides, mg/dL | 580 | 571 | 293 | 445 | 335 | 7420 | 238 | 2238 | 10,623 | 1134 | 2056 |
| Cholesterol, mg/dL | 145 | 145 | 125 | 164 | 165 | 740 | 172 | 173 | NR | 225 | 145 |
| HDL cholesterol, mg/dL | 22 | 23 | 21 | 42 | 32 | 18 | 31 | NR | 23 | 19 | 28 |
| HbA1C, % | 6.4 | 5.4 | 5.3 | 10.7 | 6.3 | 8 | 5.2 | 10.4 | 9.3 | 5.5 | 11.5 |
| Glucose, mg/dL | 125 | 87 | 74 | 176 | 111 | 283 | 87 | 218 | 277 | 83 | 102 |
| Insulin, µU/mL | 55.7 | 208 | 8.7 | 15.6 | 55.9 | 26.8 | 46.4 | 55.2 | NR | 218.9 | 47.1 |
| Leptin, ng/mL | NR | 1 | 0.6 | 0.1 | 0.4 | 1.48 | 4 | 1.62 | 0 | 0.5 | 1 |
| ALT, IU/L | 70 | 92 | 11 | 31 | 216 | 97 | 56 | 119 | 27 | 103 | 146 |
| AST, IU/L | 35 | 50 | 22 | 31 | 120 | 70 | 31 | 66 | 20 | 66 | 71 |
| Proteinuria, g/d | 0.926 | 0.099 | NR | 0.271 | 0.518 | 10.099 | 0.110 | 2.12 | 0.30 | NA | 0.420 |
| Body fat,a % | 13.6 | 14.4 | 13.6 | 6.6 | NR | 3.1 | 25 | 8.3 | 4.3 | 4.0 | 4.5 |
For patients who were treated with metreleptin, the data reported are before the initiation of therapy.
Abbreviations: ALT, alanine aminotransferase; AST, aspartate aminotransferase; HbA1c, hemoglobin A1c; NR, not reported.
a
Body fat from dual-energy x-ray absorptiometry.