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Table 1 Clinical parameters and complications in patients from FPLD2 group harbouring the p.(Thr655Asnfs*49) pathogenic variant in comparison with OB population

From: Familial partial lipodystrophy type 2 and obesity, two adipose tissue pathologies with different inflammatory profiles

 

p.(Thr655Asnfs*49)

OB group

 

FPLD2 group

 

P-value*

Age (years)

39.5 [29.0-49.5]

40 [31.0-50.3]

0.78

Sex (W/M)

50/10

83.3%/16.7%

49/11

81.7%/18.3%

1

Anthropometrics parameters

   

 Weight (kg)

63.7 [55.5–77.7]

95.2 [79.9-107.9]

< 0.01

 BMI (kg/m2)

25.1 [22.2–28.7]

35.0 [28.9–42.1]

< 0.01

 Body fat mass (kg)

16.6 [11.7–23.9]

39.9 [28.0-51.9]

< 0.01

 Waist circumference (cm)

86.0 [75.0–94.0]

106 [92.0-120.0]

0.006

 Waist/Hip ratio

0.97 [0.93-1.00]

0.95 [0.92–0.98]

0.4

Metabolic parameters

   

Diabetes

26 (43.3%)

24 (40.0%)

0.88

Prediabetes

20 (58.8%)

13 (37.1%)

0.28

 HOMA-IR

3.9 [2.4–7.5]

4.2 [3.2–5.8]

0.78

Dyslipidemia (a)

50 (83.3%)

42 (71.2%)

0.36

 Triglycerides (g/L)

1.4 [1.1-2.0]

1.1 [0.9–1.5]

< 0.01

 LDL-cholesterol (g/L)

1.1 [0.8–1.3]

1.1 [0.8–1.4]

0.57

 HDL-cholesterol (g/L)

0.4 [0.3–0.5]

0.5 [0.4–0.5]

0.02

 Lipid-lowering therapy (a)

14 (24.1%)

10 (16.7%)

0.57

Organ dysfunction

   

Hepatic status

   

 NAFLD (US)

47 (82.4%)

45 (78.9%)

0.87

 FIB-4

0.7 [0.4–0.9]

0.6 [0.5–0.8]

0.85

 High risk of hepatic fibrosis (b)

3 (5.2%)

4 (7.4%)

0.78

Cardiovascular disease

   

 Hypertension

19 (32.2%)

16 (26.7%)

0.78

 Stroke

3 (5.0%)

1 (1.6%)

0.75

 Ischemic coronary disease

4 (6.6%)

4 (6.6%)

1

 Carotid stenosis > 50%

3 (5.0%)

1 (1.6%)

0.75

 Lower limb atherosclerosis

1 (1.6%)

0 (0%)

0.79

 Cardiovascular atherosclerotic disease (c)

14 (23.7%)

10 (16.7%)

0.64

Kidney disease

   

 Micro-/macro-albuminuria

15 (26.8%)

12 (23.5%)

0.92

 Clearance (ml/min/1,73)

96 [82-111.5]

93 [80-103.3]

0.57

  1. If not stated otherwise data are number (%) or median (Interquartile range). Prediabetes was defined by impaired fasting glucose (fasting plasma glucose between 6.1 and 6.9 mmol/L) and/or impaired glucose tolerance (plasma glucose 2 h-OGTT between 7.8 and 11.0 mmol/L).(a) Use of lipid-lowering agents (statin, ezetimib or fibrates), (b) High-risk liver fibrosis was defined by the presence of NAFLD on US with FIB-4 > 3.25 and/or APRI > 1.5 and/or F3-F4 fibrosis stage assessed by the liver stiffness measurement, (c) Cardiovascular atherosclerotic disease was defined by either a previous diagnosis of ischemic coronary disease or stroke, carotid stenosis > 50% or lower limb atherosclerosis assessed by Doppler US and/or a Coronary Artery Calcium (CAC) score > 11 in patients under 50 years of age or > 101 in patients over 50 years of age. *P-values were adjusted using False Discovery Rate method. (BMI) Body mass index, (HOMA-IR) homeostasis model assessment of insulin resistance, (NAFLD) nonalcoholic fatty liver disease, (M) Men and (W) Women, (US) liver ultrasound.