Endocrine Abstracts

Background: Monogenic familial Partial Lipodystrophy, a rare but clinically important cause of severe insulin resistance, is often underdiagnosed.

Case: A 33 years’ lady was referred to the diabetes clinic for sub-optimal glycaemic control. She was diagnosed with diabetes at 22 years of age, insidious in onset, and was managed as Type 2 diabetes for 10 years until presentation. She had a h/o oligomenorrhoea and was diagnosed with PCOS. She also had history of biopsy confirmed fatty liver, diagnosed due to elevated liver enzymes. She had a family history of diabetes as well. She was commenced on Metformin at diagnosis of diabetes, and Dapagliflozin was added later. At presentation in clinic, she had a BMI of 29, severe acanthosis nigricans, with loss of fat on extremities. Biochemically, HbA1c was 81 mmol/mol, with triglycerides 4 mol/l, and a plasma C-peptide of 3274 pmol/l. This, in the absence of obesity, suggested severe insulin resistance. She underwent genetic testing which was positive for PPARG gene (p. (Pro454LeufsTer14) mutation. Diagnosis of autosomal dominant familial partial lipodystrophy (FLPD2) was thus confirmed, which explained her diabetes, PCOS, as well as fatty liver. She was commenced on a low-fat diet and managed with insulin and Metformin as part of preconception planning. HbA1c is now 53 mmol/mol.

Conclusion: Non-obese patients with history of early onset diabetes and fatty liver should raise suspicion of insulin resistance syndrome and be investigated for partial lipodystrophy.