Table 1.
Biochemical findings in probands with FPLD3.
| PPARG mutation | Arg308Pro Proband 1 |
Ala261Glu Proband 2 |
Ala261Glu Proband 3 |
Normal range |
|---|---|---|---|---|
| Gender | Female | Female | Female | |
| Age at time of assessment- years | 16 | 22 | 39 | |
| Age at first presentation- years | 16 | 20 | 30 | |
| Height – m | 1.46 | 1.53 | 1.45 | |
| Weight – kg | 48.0 | 61.0 | 55.0 | |
| BMI* - kg/m2 | 23 | 26 | 26 | |
| Total body fat- % | 20 | NA | NA | |
| Predicted body fat - %** | 27 | NA | NA | |
| Truncal fat - % | 22 | NA | NA | |
| Leg fat - % | 18 | NA | NA | |
| Hypertension | No | No | Yes | |
| T2DM or IGT¶ | Yes | Yes | Yes | |
| PCOS§ | Yes | Yes | Yes | |
| NAFLD♯ | Yes | NA | NA | |
| Triglyceride - mmol/L | 13.0 | 16.6 | 11.3 | <1.7 |
| HDL-Cholesterol - mmol/L | 0.4 | 0.5 | 0.5 | >1.0 |
| Total-Cholesterol - mmol/L | 4.7 | 8.2 | 5.1 | <5.1 |
| Insulin - pmol/L | 405 | 1253 | NA | <60 |
| Glucose - mU/L | 22.4 | 6.4 | 12.3 | <6.1 |
| Glycated hemoglobin -mmol/mol | 61 | NA | 78 | 20-40 |
| ALT U/L | 20 | 9 | <30 | |
| GGT U/L | 32 | 18 | <35 | |
| Familial co-segregation | Unaffected mother and sibling are mutation negative | Affected male sibling with the mutation. | Affected male sibling with the mutation. | |
| ***Functional score | −0.932 | −3.798 | −3.798 |
NA denotes not available. Fat mass and distribution was assessed with dual energy X-ray absorptiometry (DXA) performed using a GE-lunar iDXA (software version 15).
The body-mass index (BMI) is the weight in kilograms divided by the square of the height in meters.
Predicted body fat = (1.48*BMI)-7
Type 2 diabetes mellitus (T2DM) or impaired glucose tolerance (IGT) – yes or no indicates the presence or absence of either of these conditions.
Polycystic ovary syndrome (PCOS) - yes or no indicates the presence or absence of this syndrome.
Non-alcoholic fatty liver disease (NAFLD) – yes indicates NAFLD as confirmed by ultrasound and magnetic resonance spectroscopy.
Functional score as derived from http://miter.broadinstitute.org/