Clinical and imaging features of women with polygenic partial lipodystrophy: a case series.

ABSTRACT:

Background

Familial partial lipodystrophy (FPLD) is an inherited disorder of white adipose tissue that causes premature cardiometabolic disease. There is no clear diagnostic criteria for FPLD, and this may explain the under-detection of this condition.

Aim

This pilot study aimed to describe the clinical features of women with FPLD and to explore the value of adipose tissue measurements that could be useful in diagnosis.

Methods

In 8 women with FPLD and 4 controls, skinfold measurements, DXA and whole-body MRI were undertaken.

Results

Whole genome sequencing was negative for monogenic metabolic causes, but polygenic scores for partial lipodystrophy were elevated in keeping with FPLD type 1. The mean age of diagnosis of DM was 31 years in the FPLD group. Compared

SUBMITTER: Loh WJ 

PROVIDER: S-EPMC10847407 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature