First diagnosis of familial partial lipodystrophy syndrome type 3 during pregnancy associated with a novel heterozygous PPARG variant and a concurrent ABCC8 variant: a case report - Takeaways - MDSpire
Coming Soon: Introducing MDSpire News. Learn more
Conexiant’s news site is now MDSpire News. Learn more

Diagnosis of Familial Partial Lipodystrophy Type 3 During Pregnancy Linked to a Novel Heterozygous Variant in PPARG and a Concurrent Variant in ABCC8: A Case Study

  • By

  • Andreas Holstein

  • Ingy Jabri

  • Jonas A. Linck

  • Anke Tönjes

  • David J. F. Holstein

  • Peter Kovacs

  • Luise Pirlich

  • June 22, 2026

Share

  • 1

    Familial partial lipodystrophy (FPLD) is characterized by selective loss of adipose tissue and severe metabolic disturbances.

  • 2

    The case study reports a woman with severe FPLD3 diagnosed during pregnancy, linked to a novel variant in the PPARG gene.

  • 3

    The patient experienced severe hypertriglyceridaemia and acute pancreatitis, complicating her pregnancy.

  • 4

    Intensive insulin therapy, metformin, and omega-3 fatty acids effectively managed her triglyceride and blood glucose levels.

  • 5

    Early diagnosis and multidisciplinary management of FPLD during pregnancy are crucial for optimizing maternal and fetal health.

Original Source(s)

First diagnosis of familial partial lipodystrophy syndrome type 3 during pregnancy associated with a novel heterozygous PPARG variant and a concurrent ABCC8 variant: a case report

  • by Andreas Holstein, Ingy Jabri, Jonas A. Linck, Anke Tönjes, David J. F. Holstein, Peter Kovacs, Luise Pirlich

  • June 22, 2026

Related Content

National Survey on Implementation Patterns and Functional Needs for Hospital-Wide Glycemic Management Systems in the Chinese Mainland: Mixed Methods Study

High progesterone may be tied to syringoma

Elevated levels occurred in 29% of women with the condition compared with 6% of controls in a cross-sectional study.

FDA monthly preview: Key September decisions to watch

Several FDA decisions across multiple specialties are expected this month.