Endocrine Abstracts

Introduction: Familial partial lipodistrophy (FPL) is a rare genetic disorder characterized by a progressive loss of adipose tissue from various areas of the body. Associated complications include diabetes mellitus, hypertriglyceridemia, non-alcoholic fatty liver disease, polycystic ovaries, acanthosis nigricans, premature atherosclerosis.

Case presentation: The first case is about a 19-years-old woman, known with insulinoresistance (under metformin) and hipothyroidism after thyroidectomy for Graves disease (histopathology: papilary microcarcinoma). The clinical examination revealed a BMI of 22.43 kg/m², preserved subcutaneous fat tissue on the facial and cervical regions, with reduced adipose tissue on the upper and lower limbs, thorax and abdomen, cervicalacanthosis nigricans andcafé au lait spots with irregular pattern on the anterior right hemithorax. The laboratory investigations showed an elevated insulin level (72.4 microU/ml), a HOMA index of 17.1 and mixed dyslipidemia (LDLc=150.8 mg/dl, triglycerides=221 mg/dl, HDLc=28 mg/dl). NGS sequencing revealed a pathogenic variant in the IGF1R gene. The second patient is a 35-years-old womanwith a history of poorly managed hypertriglyceridemia. Clinical examination showed a BMI of 24.9 kg/m², moderate lipodistrophy on the lower limbs and mild acanthosis nigricans on the cervical region. The laboratory investigations showed severe hypertriglyceridemia (under treatment with omega-3 acids, rosuvastatin, ezetimib), and severe insulinoresistance (insulin = 46.02 mcroU/ml, HOMA index=12.3). The evaluation also diagnosed a polycysticovary syndrome (suggestive ovarian ecography, clinical and paraclinical hyperandrogenism).

Conclusion: The standard-of-care in lyposidtrophy is to manage the metabolic complications of the disorder, with options including lifestyle modification (diet and exercise) and pharmacotherapy for each specific complication. However, these conventional therapies do not address the underlying causes and often provide insufficient metabolic control, so both patients will receive metreleptin (recombinant analogue of human leptin).