Table 4.
Disease characteristics and metabolic parameters in patients diagnosed with CGL at or before 1 year of age
| Patients diagnosed ≤ 1 year of age | |
|---|---|
| Sex, n/n(available) (%) | |
| Female | 19/22 (86) |
| Male | 3/22 (14) |
| Physical features, n/n(available) (%) | |
| Acanthosis nigricans | 6/18 (33) |
| Acromegaloid features | 8/18 (44) |
| Hirsutism* | 4/19 (21) |
| Organ system abnormalities, n/n(available) (%) | |
| Bones/joints | 1/22 (5) |
| Cardiovascular system | 9/22 (41) |
| Liver | 15/22 (68) |
| Hepatomegaly | 15/22 (68) |
| Pancreas | 1/22 (5) |
| Renal system | 4/22 (18) |
| Spleen | 8/22 (36) |
| Splenomegaly | 8/22 (36) |
| Medication history, n/n(available) (%) | |
| Anticoagulants | 0/22 (0) |
| Antidiabetic medication | 0/22 (0) |
| Cardiovascular medication | 2/22 (9) |
| Lipid-lowering medication/treatment | 2/22 (9) |
| Metabolic parameters | |
| FPG (mmol/L) | |
| n(available) | 11 |
| Mean (± SD) | 7.0 (± 3.5) |
| Median (range) | 5.4 (4.0–14.0) |
| HbA1c (%) | |
| n(available) | 13 |
| Mean (± SD) | 6.1 (± 1.9) |
| Median (range) | 5.6 (4.5–11.5) |
| > 5.7%, n/n(available) (%) | 5/13 (38) |
| > 6.5%, n/n(available) (%) | 3/13 (23) |
| > 8.0%, n/n(available) (%) | 2/13 (15) |
| Total cholesterol (mmol/L) | |
| n(available) | 14 |
| Mean (± SD) | 4.6 (± 1.4) |
| Median (range) | (2.1–7.7) |
| > 5.18 mmol/L, n/n(available) (%) | 4/14 (29%) |
| Triglycerides (mmol/L) | |
| n(available) | 17 |
| Mean (± SD) | 4.1 (± 4.5) |
| Median (range) | 2.4 (0.9–18.4) |
| > 1.69 mmol/L, n/n(available) (%) | 10/17 (59) |
| > 2.26 mmol/L, n/n(available) (%) | 9/17 (53) |
| > 5.65 mmol/L, n/n(available) (%) | 4/17 (24) |
| ALT (IU/L) | |
| n(available) | 16 |
| Mean (± SD) | 70 (± 51) |
| Median (range) | 49 (28–173) |
| > 35 IU/L, n/n(available) (%) | 12/16 (75) |
| > 55 IU/L, n/n(available) (%) | 7/16 (44) |
| AST (IU/L) | |
| n(available) | 18 |
| Mean (± SD) | 63 (± 36) |
| Median (range) | 54 (29–187) |
| > 35 IU/L, n/n(available) (%) | 16/18 (89) |
| > 48 IU/L, n/n(available) (%) | 10/18 (56) |
| GGT (IU/L) | |
| n(available) | 10 |
| Mean (± SD) | 77 (± 52) |
| Median (range) | 66 (18–175) |
| Creatine kinase (IU/L) | |
| n(available) | 11 |
| Mean (± SD) | 1256 (± 1793) |
| Median (range) | 160 (60–6000) |
*Female patients only
Data were obtained at the time of patient diagnosis and during leptin-replacement naïve follow-up visits as permitted by available medical records. ALT Alanine aminotransferase, AST Aspartate aminotransferase, CGL Congenital generalized lipodystrophy, FPG Fasting plasma glucose, GGT Gamma-glutamyl transferase, HbA1c Glycated hemoglobin, n Number of patients exhibiting the disease characteristic, n(available) Number of patients with available data, SD Standard deviation