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

Table 1 Characteristics of study group subjects

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.

ISSN: 1758-5996