ANTHROPOMETRIC, BIOCHEMICAL AND IMAGING CHARACTERISTICS OF FEMALES WITH DIABETES AND FAMILIAL PARTIAL LIPODYSTROPHY

Abstract

INTRODUCTION
Familial partial lipodystrophy (FPL) is an under recognized condition characterized by an increased genetic predisposition to abnormalities in white adipose tissue function, quantity, and distribution, leading to youngonset metabolic syndrome including type 2 diabetes mellitus (T2DM). However, in clinical practice, there are no clear criteria to diagnose FPL. This pilot study aimed to determine clinical markers using skinfold measurements, DXA, and MRI scans to identify individuals with FPL and to characterize their adipose tissue distribution and fat phenotypes.

METHODOLOGY
In 8 females with FPL and 4 BMI-matched female controls, skinfold measurements, HOMA-IR, whole genome sequencing, and DXA were performed. MRI was used to measure abdominal subcutaneous adipose tissue (SAT), visceral adipose tissue (VAT), and femoral and calf SAT and muscle volumes.

RESULTS
Both groups’ median BMI were 32-33 kg/m2. All eight patients in the FPL group had T2DM with median disease onset at age 31 years. FPL, when compared to controls, had higher levels of HOMA-IR (p = 0.028), reduced thigh skinfold thickness (20.4 mm vs 51.4 mm, p = 0.008) with a correspondingly increased subscapular-to-thigh skinfold ratio (p = 0.004), and iliac-to-thigh skinfold ratio (p = 0.004). The FPL group had a reduced leg fat percentage (34.6 vs 48.1, p = 0.004) with an increased ratio of trunk-to-legs fat percentage (1.36 vs 0.98, p = 0.004), and android to gynoid ratio (1.21 vs 0.98, p = 0.008). The FPL group had decreased SAT volume in the femoral and calf.