Assessment of bone density and microarchitecture in patients with familial partial lipodystrophy

Familial partial lipodystrophy (FPL) is a rare condition related to partial deficiency of adipose tissue and consequent insulin resistance resulting in metabolic alterations. Although type 2 diabetes mellitus is associated with bone changes, few studies have evaluated bone health in familial partial lipodystrophy.

Cross-sectional study that selected patients from a specific outpatient clinic for LPF and controls from a database of healthy individuals. Patients and controls underwent clinical evaluation and examinations by dual energy X-ray absorptiometry (DXA) and high-resolution quantitative peripheral computed tomography (HR-pQCT).

Twenty-four patients were included, with a mean age of 43.4 years (± 11.9), as twenty controls, with a mean age of 39.4 (± 6.4). In the FPL group, 15 participants had a diagnosis of DM, with a mean disease duration of 16.5 years (± 7.4). Regarding DXA, there was a statistical difference in the Z-score of the spine and femur, with higher values in the FPL group. Evaluating HR-pQCT in the tibia and radius, a significant difference in cortical pore diameter at the radius was observed, with higher values in the FPL group. A comparison between the FPL subgroup with DM and the controls confirmed the difference in porosity diameter and showed a statistical difference in the radius trabecular thickness parameter (Tb.Th), with greater Tb.Th in the FPL group with DM. Two patients presented femur fracture after falling from their own height during the study - after 20 years of diagnosis of DM and additional risk factors for frailty.

In summary, FPL patients - especially those with DM - exhibit alterations in bone microarchitecture, including increased cortical pore diameter and trabecular thickness. Despite normal or even elevated Z-scores on DXA, fragility fractures may occur, warranting routine imaging and preventive strategies in this population.