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Table 1 Characteristics of study group subjects

From: Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation

Patient Age (y) LMNA mutation BMI (kg/m2) Clinical lipoatrophy Fat deposition DM2 (age of onset) Dyslipidemia POS Comorbidities FMR
*A-I 44.5 p.R482Q 22,6 lower limbs face, neck IFG low HDL-c, Hypertrigl. yes HBP 1,8
*A-II 42.9 p.R482Q 22,6 four limbs face, neck 38 low HDL-c no HBP, CAD 2,38
*A-III 46.6 p.R482Q 23,1 lower limbs face, neck no low HDL-c, Hypertrigl. yes HBP 1,91
**B-I 14.7 p.R482W 22,1 slight, lower limbs no no no yes no 1,33
**B-II 27.9 p.R482W 27,6 four limbs face, neck, supraclavicular 25 low HDL-c, Hypertrigl. yes no 1,71
C-I 26.3 p.R482W 27,4 four limbs face, neck, supraclavicular 26 low HDL-c, Hypertrigl. yes Dilated Miocardiopathy 2,53
***D-I 28.4 p.R482W 24,7 four limbs face, neck 22 low HDL-c, Hypertrigl. yes HBP 2,50
***D-II 31 p.R482W 20,5 slight, lower limbs no 29 low HDL-c, Hypertrigl. no HBP 1,81
***D-III 33 p.R482W 25,1 slight, lower limbs face, neck no low HDL-c, Hypertrigl. yes no 1,87
***D-IV 25.5 p.R482W 18,7 slight, lower limbs no no Hypertrigl. no no 1,28
E 19.4 p.N466D 28,1 four limbs, abdome face, neck 18 low HDL-c, Hypertrigl. yes HBP 1,62
****F-I 42 p.R482W 24,2 lower limbs trunk, face, neck 31 low HDL-c, Hypertrigl. yes HBP 2,25
****F-II 51.3 p.R482W 18,5 lower limbs no 28 low HDL-c, Hypertrigl. no muscular dystrophy 1,3
G 38.7 no 45,5 lower limbs trunk 24 DM2, HDL-c,Hypertrigl Yes HBP 1,03
H 57.6 no 32,3 lower limbs trunk 27 DM2, HDL-c,Hypertrigl No HBP 1,35
I 60.2 no 34,3 lower limbs trunk no HDL-c,Hypertrigl yes HBP 1,04
J 56.8 no 32,5 lower limbs trunk 43 HDL-c,Hypertrigl yes HBP 1,64
K 48.6 no 31,1 Four limbs Trunk, neck 23 HDL-c,Hypertrigl Yes HBP 1,69
  1. y- years.
  2. FPLD- Familial Partial Lipodystrophy.
  3. Low HDL-c- low HDL-cholesterol.
  4. Hypertrig- Hypertriglyceridemia.
  5. POS- Polycystic Ovarian Syndrome.
  6. DM2- Type 2 Diabetes Mellitus.
  7. IFG- Impaired Fasting Glucose.
  8. CAD- Coronary Arterial Disease.
  9. HBP- High Blood Pressure.
  10. FMR- Fat Mass Ratio.
  11. * Patients A-I, A-II and A-III are sisters and presented familial antecedents of a DM2, CAD and consanguinity.
  12. ** Patients B-I and B-II are mother and child.
  13. ***Patients D-I, D-II are siblings and cousins from D-III and D-IV. They present another relatives with partial lipodistrophy.
  14. **** Patients F-I and e F-II are sisters and do not present another relatives with partial lipodistrophy.
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