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

AI Article Synopsis

  • Familial partial lipodystrophy (FPLD) is a genetic disorder that affects fat tissue and leads to early cardiometabolic issues, making diagnosis challenging due to a lack of clear criteria.
  • A pilot study involving 8 women with FPLD and 4 control participants aimed to identify clinical features and assess adipose tissue measurements for diagnostic purposes.
  • The results showed that women with FPLD had early diabetes onset, distinct adipose tissue characteristics like reduced thigh fat, and higher trunk-to-leg fat ratio, suggesting these measurements could help in identifying FPLD1 patients.

Article 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10847407PMC
http://dx.doi.org/10.1038/s41387-024-00260-yDOI Listing

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