Table 3.
Comparison of disease characteristics and metabolic parameters by CGL subtype
| CGL1 subtype | CGL2 subtype | CGL4 subtype | P-value | |
|---|---|---|---|---|
| Age at diagnosis, years | ||||
| n(available) | 14 | 18 | 10 | |
| Mean (± SD) | 9.7 (± 10.6) | 3.3 (± 8.4) | 0.8 (± 0.8) | |
| Median (range) | 7 (0.1–37) | 0.8 (0.1–36) | 0.5 (at birth–2) | |
| Sex, n/n(available) (%) | ||||
| n(available) | 14 | 18 | 10 | |
| Female | 13 (93%) | 16 (89%) | 7 (70%) | |
| Male | 1 (7%) | 2 (11%) | 3 (30%) | |
| Physical features, n/n(available) (%) | ||||
| Acanthosis nigricans | 9/14 (64) | 10/14 (71) | 0/10 (0) | 0.001 |
| Acromegaloid features | 9/14 (64) | 10/14 (71) | 6/10 (60) | 0.91 |
| Organ system abnormalities, n/n(available) (%) | ||||
| Bones/joints | 4/14 (29) | 2/18 (11) | 2/10 (20) | 0.48 |
| Cardiovascular system | 0/14 (0) | 10/18 (56) | 6/10 (60) | 0.001 |
| Liver | 11/14 (79) | 13/18 (72) | 5/10 (50) | 0.39 |
| Hepatomegaly | 8/14 (57) | 13/18 (72) | 5/10 (50) | 0.51 |
| Pancreas | 2/14 (14) | 1/18 (6) | 0/10 (0) | 0.59 |
| Renal system | 5/14 (36) | 5/18 (28) | 0/10 (0) | 0.09 |
| Spleen | 3/14 (21) | 6/18 (33) | 5/10 (50) | 0.34 |
| Splenomegaly | 3/14 (21) | 6/18 (33) | 5/10 (50) | 0.34 |
| Medication history, n/n(available) (%) | ||||
| Anticoagulants | 0/14 (0) | 1/18 (6) | 0/10 (0) | 1.00 |
| Anti-diabetic medication | 6/14 (43) | 2/18 (11) | 0/10 (0) | 0.02 |
| Cardiovascular medication | 1/14 (7) | 4/18 (22) | 2/10 (20) | 0.57 |
| Lipid-lowering medication/treatment | 6/14 (43) | 3/18 (17) | 1/10 (10) | 0.16 |
| Metabolic parameters | ||||
| FPG (mmol/L) | ||||
| n(available) | 12 | 9 | 1 | 0.62* |
| Mean (± SD) | 9.7 (± 6.3) | 7.4 (± 3.8) | 4.0 (± 0.0) | |
| Median (range) | 6.1 (4.2–19.3) | 5.4 (4.0–14.0) | 4.0 (4.0–4.0) | |
| HbA1c (%) | ||||
| n(available) | 11 | 12 | 4 | 0.41 |
| Mean (SD) | 8.2 (± 3.8) | 6.9 (± 2.6) | 5.3 (± 0.4) | |
| Median (range) |
5.8 (4.6–14.3) |
5.8 (4.5–12.0) |
5.3 (4.8–5.7) |
|
| > 5.7%, n/n(available) (%) | 6/11 (55) | 6/12 (50) | 0/4 (0) | 0.19 |
| > 6.5%, n/n(available) (%) | 5/11 (45) | 5/12 (42) | 0/4 (0) | 0.37 |
| > 8.0%, n/n(available) (%) | 5/11 (45) | 3/12 (25) | 0/4 (0) | 0.23 |
| Total cholesterol (mmol/L)* | ||||
| n(available) | 12 | 13 | 3 | 0.04 |
| Mean (± SD) | 5.7 (± 2.7) | 4.5 (± 1.2) | 3.2 (± 0.9) | |
| Median (range) |
5.2 (3.8–13.2) |
4.3 (3.0–7.7) |
3.6 (2.1–3.8) |
|
| Triglycerides (mmol/L) | ||||
| n(available) | 12 | 16 | 4 | 0.39 |
| Mean (± SD) | 8.5 (± 10.6) | 5.2 (± 4.4) | 2.0 (± 0.6) | |
| Median (range) |
2.5 (0.9–31.0) |
3.9 (1.4–18.4) |
1.8 (1.6–2.9) |
|
|
> 1.69 mmol/L, n/n(available) (%) |
7/12 (58) | 13/16 (81) | 2/4 (50) | 0.28 |
|
> 2.26 mmol/L, n/n(available) (%) |
6/12 (50) | 12/16 (75) | 1/4 (25) | 0.14 |
|
> 5.65 mmol/L, n/n(available) (%) |
4/12 (33) | 5/16 (31) | 0/4 (0) | 0.65 |
| ALT (IU/L) | ||||
| n(available) | 12 | 14 | 8 | 0.09 |
| Mean (± SD) | 48.0 (± 53.0) | 89.0 (± 69.0) | 54.0 (± 19.0) | |
| Median (range) |
34.0 (14.0–198.0) |
57.0 (20.0–232.0) |
59.0 (30.0–78.0) |
|
|
> 35 IU/L, n/n(available) (%) |
6/12 (50) | 10/14 (71) | 5/8 (62) | 0.61 |
|
> 55 IU/L, n/n(available) (%) |
2/12 (17) | 7/14 (50) | 4/8 (50) | 0.14 |
| AST (IU/L) | ||||
| n(available) | 10 | 15 | 8 | 0.02 |
| Mean (± SD) | 34.0 (± 20.0) | 65.0 (± 41.0) | 58.0 (± 14.0) | |
| Median (range) |
28.0 (15.0–76.0) |
49.0 (26.0–187.0) |
60.0 (36.0–78.0) |
|
|
> 35 IU/L, n/n(available) (%) |
4/10 (40) | 12/15 (80) | 8/8 (100) | 0.01 |
|
> 48 IU/L, n/n(available) (%) |
2/10 (20) | 8/15 (53) | 6/8 (75) | 0.08 |
| GGT (IU/L) | ||||
| n(available) | 5 | 8 | 2 | |
| Mean (± SD) | 59 (± 66) | 58 (± 26) | 121 (0) | 0.16 |
| Median (range) | 44 (13–175) | 55 (31–96) |
121 (121–121) |
|
| Creatine kinase | ||||
| n(available) | 5 | 7 | 8 | 0.002 |
| Mean (± SD) | 76 (± 53) | 131 (± 78) | 2291 (± 1716) | |
| Median (range) | 63 (16–160) | 82 (60–249) |
1810 (101–6000) |
|
Data were obtained at the time of patient diagnosis and during leptin-replacement naïve follow-up visits as permitted by available medical records. Statistical comparisons were made using median values. *P-value for comparison between CGL1 and CGL2 groups only. CGL4 group omitted due lack of data. ALT Alanine aminotransferase, AST Aspartate aminotransferase, CGL Congenital generalized lipodystrophy, FPG Fasting plasma glucose, HbA1c Glycated hemoglobin, n Number of patients exhibiting the disease characteristic, n(available), number of patients with available data, SD Standard deviation