Endocrine Abstracts

Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare genetic disease associated with loss of subcutaneous adipose tissue and metabolic involvement such as diabetes, hyperlipidemia, and hepatosteatosis. We aimed to present a rare FPLD2 caused by an atypical Lamin A/C gene (LMNA) mutation. We report a case of an Algerian 31 year-old female with a lamin A specific pathogenic variant in exon 11, denoted LMNA (c.5454G b  A; p.R582H), present in the homozygous state. The patient consulted for a male morphotype, with a personal and a family history of diabetes including a sister with a similar pattern. First she noticed well-defined muscles in her arms and legs around puberty and gradual disappearance of subcutaneous fat. Although the patient was unable to define a clear period of time when subcutaneous fat disappeared. At 21 years, she was diagnosed diabetes militus currently on 1.6 IU/kg of insulin without achieving glycemic target. Physical examination revealed generalized fat loss with lunar fascia, with massive muscles of the arms and thighs, but also visibility of veins and absence of subcutaneous tissue, with curled fingers. Her body mass index (BMI) was 24 kg/m², her gonadal axis does not find any cycle disorders nor hirsutism. Her biological assessment find several desorders such as HbA1c above 12% and elevated triglyceride at 3000 mg/dl. Hepatic, Cardiac and neurological regular assessments were normal. In conclusion, lipodystrophy is a very heterogeneous disease with a current classification based on clinical and morphometric features, LMNA undergoes alternative splicing to produce two nuclear laminar proteins – lamin A and C. Multiple missense mutations associated with FPLD2, most of which are located in exon 8 at the codon position 482, have been reported, The mutation c.5454G b A; p.R582H in homozygous state is rarely found.