Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study.

ABSTRACT:

Background

There is a lack of information on the clinical and molecular presentation of familial partial lipodystrophy (FPLD), a rare genetic disorder characterized by partial subcutaneous fat loss.

Objective

This study aimed to provide a comprehensive assessment of the clinical, metabolic, and genetic features of FPLD in the Brazilian population.

Methods

In a multicenter cross-sectional investigation we evaluated patients with FPLD across five Brazilian reference centers for lipodystrophies. Diagnosis of FPLD was made by clinical evaluation and genetic confirmation. Data on genetic, clinical, and metabolic characteristics were captured. Statistical analysis involved the utilization of the Kruskal-Wallis test to identify differences.

Results

The study included

SUBMITTER: Guidorizzi NR 

PROVIDER: S-EPMC11180885 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature