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 - Summary - MDSpire
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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
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.
