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
Abstract
Familial partial lipodystrophy (FPLD) is a rare genetic syndrome characterised by persistent, selective loss of adipose tissue and is closely associated with severe metabolic disturbances. Pregnancy in women with FPLD is associated with a high risk for both mother and foetus, while clinical experience remains very limited. Evidence from case reports and small series is essential for risk stratification, multidisciplinary management, and optimization of maternal and foetal health. Here, we report the case of a woman at 18 weeks of gestation with very severe hypertriglyceridaemia complicated by acute pancreatitis. The patient had a history of young-onset diabetes mellitus, hypertension, polycystic ovary syndrome (PCOS) and previously known hypertriglyceridaemia, accompanied by characteristic loss of gluteofemoral and lower limb adipose tissue, raising the clinical suspicion of FPLD. Molecular genetic analysis was performed using next-generation sequencing-based gene panel diagnostics. Variants were described according to Human Genome Variation Society (HGVS) nomenclature and classified according to the American College of Medical Genetics and genomics/Association for Molecular Pathology (ACMG/AMP) guidelines. We made the initial diagnosis of severe FPLD3 syndrome and detected a novel heterozygous c.380A>C, p.(Glu127Ala) variant in the peroxisome proliferator-activated receptor gamma gene (PPARG), classified as likely pathogenic and considered causative for the patient´s…
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