Dataset Information

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 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 < 0.01); abdominal SAT, visceral adipose tissue, and femoral and calf muscle volumes were not different from controls.

Conclusion

Women with FPLD1 in Singapore have significant loss of adipose but not muscle tissue in lower limbs and have early onset of diabetes. Reduced thigh skinfold, and increased ratio of trunk to leg fat percentage on DXA are potentially clinically useful markers to identify FPLD1.

SUBMITTER: Loh WJ

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

REPOSITORIES: biostudies-literature

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Publications

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

Loh Wann Jia WJ Yaligar Jadegoud J Hooper Amanda J AJ Sadananthan Suresh Anand SA Kway Yeshe Y Lim Su Chi SC Watts Gerald F GF Velan Sambasivam Sendhil SS Leow Melvin Khee Shing MKS Khoo Joan J

Nutrition & diabetes 20240206 1

<h4>Background</h4>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.<h4>Aim</h4>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.<h4>Methods</h4>In 8 women with FPLD and 4 controls, skinfold ...[more]

PMID: 38321009

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Dataset Information

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

Background

Aim

Methods

Results

Conclusion

Publications

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

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