Familial partial lipodystrophy misdiagnosed as type 1 diabetes: ensuring accurate diagnosis: a case report
DOI:
https://doi.org/10.15277/bjd.2026.501Keywords:
familial partial lipodystrophy (FPLD), severe insulin resistance, metreleptin therapy, misclassification of diabetes, hypertriglyceridaemiaAbstract
Familial partial lipodystrophy (FPLD) is a rare, inherited disorder characterised by selective loss of adipose tissue, often affecting the limbs and gluteal region, and concurrent fat accumulation in the face, neck and intra-abdominal areas. This redistribution leads to profound insulin resistance, dyslipidaemia and fatty liver disease. It may be misdiagnosed clinically as type 1 diabetes (T1DM), particularly in patients with lean body habitus, or type 2 diabetes (T2DM) due to insulin resistance. We report a case of a young woman who was initially treated for presumed T1DM but was ultimately diagnosed with FPLD.
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