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
|
- y- years.
- FPLD- Familial Partial Lipodystrophy.
- Low HDL-c- low HDL-cholesterol.
- Hypertrig- Hypertriglyceridemia.
- POS- Polycystic Ovarian Syndrome.
- DM2- Type 2 Diabetes Mellitus.
- IFG- Impaired Fasting Glucose.
- CAD- Coronary Arterial Disease.
- HBP- High Blood Pressure.
- FMR- Fat Mass Ratio.
- * Patients A-I, A-II and A-III are sisters and presented familial antecedents of a DM2, CAD and consanguinity.
- ** Patients B-I and B-II are mother and child.
- ***Patients D-I, D-II are siblings and cousins from D-III and D-IV. They present another relatives with partial lipodistrophy.
- **** Patients F-I and e F-II are sisters and do not present another relatives with partial lipodistrophy.