Back to Search Start Over

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

Authors :
Wann Jia Loh
Jadegoud Yaligar
Amanda J. Hooper
Suresh Anand Sadananthan
Yeshe Kway
Su Chi Lim
Gerald.F. Watts
Sambasivam Sendhil Velan
Melvin Khee Shing Leow
Joan Khoo
Source :
Nutrition & Diabetes, Vol 14, Iss 1, Pp 1-9 (2024)
Publication Year :
2024
Publisher :
Nature Publishing Group, 2024.

Abstract

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 with controls, the FPLD group had increased HOMA-IR (10.3 vs 2.9, p = 0.028) and lower mean thigh skinfold thickness (19.5 mm vs 48.2 mm, p = 0.008). The FPLD group had lower percentage of leg fat and an increased ratio of trunk to leg fat percentage on DXA. By MRI, the FPLD group had decreased subcutaneous adipose tissue (SAT) volume in the femoral and calf regions (p

Details

Language :
English
ISSN :
20444052
Volume :
14
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Nutrition & Diabetes
Publication Type :
Academic Journal
Accession number :
edsdoj.6e523872ab2420698b2d36e5af5897b
Document Type :
article
Full Text :
https://doi.org/10.1038/s41387-024-00260-y