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 - Report - 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
Diagnosis of Familial Partial Lipodystrophy Type 3 During Pregnancy
Overview
This case study highlights the diagnosis of familial partial lipodystrophy type 3 (FPLD3) during pregnancy, linked to a novel heterozygous variant in the PPARG gene. The patient experienced severe hypertriglyceridaemia and acute pancreatitis.
Background
Familial partial lipodystrophy (FPLD) is a rare genetic syndrome characterized by selective loss of adipose tissue, leading to significant metabolic disturbances. Pregnancy in women with FPLD poses high risks for both maternal and fetal health.
Data Highlights
No numerical data or trial data provided in the source material.
Key Findings
A novel heterozygous variant c.380A>C, p.(Glu127Ala) in the PPARG gene was identified as likely pathogenic.
A concurrent heterozygous variant c.328G>A, p.(Ala110Thr) in the ABCC8 gene was detected, classified as of uncertain significance.
The patient presented with severe hypertriglyceridaemia and acute pancreatitis at 18 weeks of gestation.
Intensive insulin therapy combined with metformin and omega-3 fatty acids effectively managed triglyceride and blood glucose levels.
Early recognition of FPLD is critical in high-risk settings such as pregnancy.
Multidisciplinary metabolic management can stabilize severe complications and improve outcomes.
Clinical Implications
Healthcare professionals should consider FPLD in pregnant patients presenting with severe metabolic disturbances. Genetic testing and a multidisciplinary approach are essential for effective management.
Conclusion
This case highlights the complexities of diagnosing and managing FPLD3 during pregnancy.
