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Table 1 Characteristics of patients at the time of evaluation of metreleptin therapy

From: Adherence with metreleptin therapy and health self-perception in patients with lipodystrophic syndromes

Patients Age (years) Sex (M/F) Disease (gene mutation) Baseline serum leptin (ng/ml) Baseline/Delta BMI (kg/m2) Baseline/Delta Tg (mmol/l) Baseline/Delta HbA1c (%, pt) Duration of metreleptin therapy (months) Treatment adherence Effectiveness (%) Side effects (%) Ease and comfort of use (%) Global satisfaction (%) Changes in physical appearance Changes in social interactions
1 64 F FPLD2 0.59 22.8 1.93 7.7 60 A 66.7 100 66.7 66.7 + +
−2.4 −0.04 − 0.5
2 41 F FPLD2 1.43 25.7 3.32 7.7 60 P 58.3 41.7 33.3 50 +
−2.9 −0.35 0.1
3 29 F CGL1 (HMZ AGPAT2 p.L165-Q196del) 0.13 26.8 10.41 8.7 61 E 83.3 100 83.3 83.3 ++ ++
  −0.8 −6.73 −1.9
4 22 F CGL1 (HMZ AGPAT2 p.Q196fsX228) 1.73 20.3 1.79 7.6 54 P 66.7 50 44.4 58.3 ++ 0
  −1.7 −0.51 −2.5
5 27 F FPLD (unknown origin) 4.5 21.4 32.70 10.6 55 A 58.3 91.7 55.6 66.7 ++ ++
0.3 −12.72 − 0.7
6 19 M AGL 0.15 23.1 12.75 11.9 60 P 41.7 50 33.3 33.3 NC +
2.0 −11.46 −4.0
7 56 F CGL1 (HMZ AGPAT2 p.K216X) 0.15 21.5 4.02 8.1 59 E 83.3 91.7 72.2 83.3 ++
−3.3 −2.68 0.0
8 54 F FPLD2 4.12 24.5 1.76 8.5 48 E 83.3 100 66.7 83.3 ++ +
−2.7 0.75 −0.8
9 45 F FPLD2 3.44 23.0 2.58 6.9 48 E 83.3 100 66.7 83.3 ++ ++
−3.7 0.36 0.3
10 22 F FPLD2 5.64 25.0 9.87 12.1 48 A 75 100 66.7 83.3 ++ ++
−1.5 −1.93 −3.3
11 53 F FPLD2 3.60 23.2 1.5 7.1 48 A 66.7 100 66.7 83.3 + +
−1.9 1.03 −0.7
12 19 F Progeroid LD (HTZ LMNA p.D47Y) 1.12 17.4 5.0 10.4 48 P 50 75 44.4 50 + 0
−1.4 0.26 −2.9
13 39 F FPLD2 3.92 25.1 2.82 7.1 48 A 66.7 100 50 83.3 ++ ++
−1.9 −1.36 −1.1
14 47 M FPLD3 (HTZ PPARG p.L339X) 4.20 29.0 9.26 10.8 42 A 41.7 91.7 50 58.3 NC +
−1.8 2.87 −1.5
15 31 F CGL1 (HMZ AGPAT2 p.Q196fsX228) 2.18 23.7 1.00 8.7 36 P 50 100 44.4 50 – – +
−1.0 −0.03 - 0.3
16 13 F AGL 2.8 18.7 20.46 12.2 22 A 33.3 41.7 33.3 50 – –
−0.1 −15.13 −3
17 71 M CGL1 (HMZ AGPAT2 p.E172K) 0.34 20.0 5.29 8.3 18 A 75 100 55.6 83.3 NC ++
0.0 −3.29 −1.8
18 48 F FPLD3 (HTZ PPARG p.L339X) 8.4 31.1 26.67 8.0 12 A 91.7 100 55.6 100 ++ ++
−0.7 −23.52 − 0.3
19 18 M CGL2 (HMZ BSCL2 p.R138X) 3.4 19.9 2.74 5.5 108 A 75 100 55.6 83.3 ++ ++
0.7 −0.19 −0.3
20 22 M CGL2 (HMZ BSCL2 p.R138X) 0.8 25.3 5.25 5.3 108 E 75 100 55.6 91.7 ++ ++
−0.8 −0.72 −0.2
Median (IQT 25;75) 35.0 (22.0–51.7)    2.5 (0.6;4.1) 23.4 (20.6;25.3) 4.5 (2.4;10.3) 8.2 (7.2;10.6) 51.0 (43.5;60)   66.7 (52.1;81.2) 100 (79.1;100) 55.7 (44.4;66.7) 83.3 (52.1;83.3)   
−1.4 (− 0.2;-2.3) − 0.6 (− 0.2;-5.9) − 0.7 (− 0.2;-1.9)
  1. Baseline values were obtained at the time of initiation of metreleptin therapy. Delta relates to the difference between pretherapeutic and current levels of HbA1c and Tg (triglycerides). CGL congenital generalized lipodystrophy, AGL acquired generalized lipodystrophy, HMG homozygous, HTZ heterozygous, FPLD2: HTZ LMNA p.R482W, Treatment adherence was assessed as E, excellent; A, acceptable; P, poor and changes as ++ strongly improved, +improved, 0 no effect, − worsened, −- strongly worsened, NC the patient did not feel concerned, SD standard deviation; IQT, interquartile range 25–75%