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

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

  • 0 min

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  • 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

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