Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants.

ABSTRACT:

Context

Despite several reports of familial partial lipodystrophy (FPLD) type 2 (FPLD2) due to heterozygous LMNA variants and FPLD3 due to PPARG variants, the phenotypic differences among them remain unclear.

Objective

To compare the body fat distribution, metabolic parameters, and prevalence of metabolic complications between FPLD3 and FPLD2.

Methods

A retrospective, cross-sectional comparison of patients from 2 tertiary referral centers-UT Southwestern Medical Center and the National Institute of Diabetes and Digestive and Kidney Diseases. A total of 196 females and 59 males with FPLD2 (age 2-86 years) and 28 females and 4 males with FPLD3 (age 9-72 years) were included. The main outcome measures were skinfold thickness, regional body fat by dual-energ

SUBMITTER: Vasandani C 

PROVIDER: S-EPMC9664976 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature