Table 3.
Comparison of Clinical Features and Metabolic Parameters of Patients With GLPS With Heterozygous LMNA p.T10I Mutation and Others With APS
| GLPS | Total n | APSb | Total n | 95% CI of the Differences | P Value | |
|---|---|---|---|---|---|---|
| Females, % | 50 | 14 | 63 | 27 | −41, 17 | 0.50 |
| Age reported, y | 14 (8–55) | 14 | 23.0 (7–53) | 26 | −14, −2 | 0.01 |
| BMI, kg/m2 | 14.6 (11.4–25.1) | 12 | 15.4 (10.1–19.6) | 20 | −3.3, 1.1 | 0.39 |
| Fasting TG, mg/dL | 776 (238–10,623) | 13 | 121 (34–3000) | 14 | 214, 2022 | 0.0007 |
| HbA1c, % | 8.0 (5.2–10.7) | 13 | 5.3 (4.8–12.7) | 11 | 0.2, 4.0 | 0.02 |
| ALT, mU/L | 83.5 (11–216) | 12 | 36.5 (13–287) | 10 | −20, 86 | 0.31 |
| AST, mU/L | 51 (20–120) | 12 | 44.5 (16–134) | 10 | −30, 38 | 0.71 |
| HDL cholesterol, mg/dL | 21.0 (6–42) | 11 | 40.5 (14.6–50.0) | 12 | −24.7, −11.0 | 0.001 |
| Leptin, ng/mL | 0.3 (0–4.0) | 10 | 3.0 (0.8–12.6) | 11 | −5.1, −0.8 | 0.0003 |
| Fasting glucose, mg/dL | 125 (74–283) | 13 | 93 (84–277) | 13 | −10, 85 | 0.26 |
| Fasting insulin, µU/mL | 55.2 (8.7–290) | 11 | 14.7 (1.9–85.0) | 11 | 4, 136 | 0.03 |
| Total body fat,b (%) | 8.5 (0.04–25.0) | 10 | 17.2 (6.5–27.0) | 12 | −13.4, −0.1 | 0.04 |
| Lower Extremity fat,b % | 6.3 (4.0–12.9) | 7 | 15.7 (5.2–26.9) | 9 | −13.3, −1.8 | 0.01 |
| Upper Extremity fat,b % | 10.4 (3.0–13.7) | 6 | 19.3 (12.3–32.2) | 10 | −18.5, −2.3 | 0.001 |
| Truncal fat,b % | 7.8 (3.9–14.2) | 7 | 17.8 (8.1–30.2) | 10 | −17.7, −1.6 | 0.01 |
| Type of lipodystrophy | 13 | 25 | 0.01 | |||
| Generalized | 11 | 7 | ||||
| Partial | 1 | 8 | ||||
| Unspecified | 1 | 6 | ||||
| None | 0 | 4 | ||||
| Diabetes mellitus, % | 85 | 13 | 36 | 22 | 14, 68 | 0.01 |
| Hypertension, % | 50 | 10 | 50 | 12 | −36, 36 | 1.00 |
| Hypertriglyceridemia, % | 100 | 12 | 46.2 | 13 | 19, 77 | 0.005 |
| Joint contractures, % | 89 | 9 | 62 | 13 | −11, 55 | 0.33 |
| Cardiomyopathy, % | 70 | 10 | 59 | 22 | −24, 39 | 0.70 |
| Valvular disease, % | 80 | 10 | 63 | 19 | −19, 43 | 0.43 |
| Scoliosis, % | 38 | 8 | 29 | 7 | −34, 47 | 1.00 |
| Mottled skin, % | 100 | 11 | 89 | 18 | −16, 33 | 0.29 |
| Hepatomegaly, % | 100 | 11 | 50 | 10 | 13, 76 | 0.01 |
| Acanthosis nigricans, % | 40 | 10 | 0 | 12 | 6, 69 | 0.03 |
| Small atrophic breasts, % | 100 | 4 | 89 | 9 | −39, 43 | 1.0 |
Median and range are presented for continuous variables. P values are from the Wilcoxon rank sum test or Fisher’s exact test. Confidence intervals are Hodges–Lehmann confidence interval for median differences (GLPS-APS) and binomial confidence interval for differences in percentage.
Abbreviations: ALT, alanine aminotransferase; AST, aspartate aminotransferase; CI, confidence interval; HbA1c, hemoglobin A1c; BMI, body mass index; TG, triglyceride.
Patients with APS had the following heterozygous LMNA mutations: p.P4R (n = 6), p.R133L (n = 4), p.D136H (n = 3), p.C588R (n = 2), p.D300N (n = 2), p.E138K (n = 2), p.E111K (n = 1), p.E159K (n = 1), p.R644C (n = 1), p.L140R (n = 1), p.A57P (n = 1), p.P485R (n = 1), p.L59V (n = 1), p.T506* (n = 1). Patients with APS with the following heterozygous LMNA mutations had generalized lipodystrophy: p.R133L (two patients), p.R644C (one patient), p.T506del (one patient), and p.D136H (three patients).
Body fat was estimated by dual-energy x-ray absorptiometry (DXA).