Objective:

To report a case of a woman with severe hypertriglyceridaemia and acute pancreatitis during pregnancy, leading to the diagnosis of familial partial lipodystrophy type 3 (FPLD3) and identification of genetic variants.

Approach:

Key Findings:

• The patient was diagnosed with severe FPLD3 due to a novel heterozygous variant c.380A>C, p.(Glu127Ala) in PPARG, classified as likely pathogenic.
• A concurrent heterozygous variant c.328G>A, p.(Ala110Thr) in ABCC8 was identified, classified as of uncertain significance.

Interpretation:

Early recognition of FPLD is crucial in high-risk settings such as pregnancy, and multidisciplinary metabolic management can stabilize severe complications.

Limitations:

• The rarity of FPLD and its complex clinical manifestations can lead to delayed diagnosis.
• Limited clinical experience with pregnancy in women with FPLD restricts generalizability of findings.

Conclusion:

The case highlights the importance of genetic diagnosis and intensive management in pregnant women with FPLD to improve maternal and fetal outcomes.

Source

Based on findings from:

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

Andreas Holstein, Ingy Jabri, Jonas A. Linck, Anke Tönjes, David J. F. Holstein, Peter Kovacs, Luise Pirlich. Frontiers In Endocrinology, 2026.

https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2026.1855679/full

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