Endocrine Abstracts

Introduction

Familial partial lipodystrophy type 2 is caused by several pathogenic variants of lamin LMN gene. Males and females are equally affected by the autosomal recessive condition which manifests before age 2. They gradually loose fat in the upper and lower extremities as well as the gluteal area.

Case

We present a 31 year old female athlete who presented with oligomenorrhoea, diabetes mellitus, and severe fasting hypertriglyceridemia in 2007, followed by tuberous xanthoma fat deposition in 2009, hypertension and Asthma in 2019. Examination revealed a lean body habitus and evidence of severe insulin resistance (IR) i.e. hirsutism and diffuse acanthosis nigricans. The complications came early and were difficult to manage with tools available in our public setting. She used private health care until her return in 2019. She has two unaffected siblings. She received the following treatment: Pioglitazone 15 mg, Novomix 30: 54 u & 46 u, Metformin 1 g bd, Bezalip 400 mg/d + Atorvastatin 40 mg/d, Losartan 50 mg bd.

Investigations

Bloods: (2007) TC 27.5, TG 280, HbA1c 12.5%, AST 16, ALT 14, FPG 29 (2020) TC 4.3, TG 6.64, HbA1c 10.7%, HDL 0.76.

Molecular genetic analysis

Conclusion

Although this is a rare condition, early diagnosis and counselling is critical in order to minimize metabolic and systemic complications, including cardiovascular death by screening the family and treating everyone affected.