Partial lipodystrophy type 2 : One case report and literature review / 中华内分泌代谢杂志

ABSTRACT

Familial partial lipodystrophy type 2 (FPLD2) is an autosomal dominant disorder caused by mutations in LMNA gene,which is characterized by adolescent onset selective subcutaneous fat loss with metabolic abnormalities such as insulin resistance.Severe insulin resistance can cause acanthosis nigricans,pseudoacromegaly,ovarian dysfunction,glucose,and lipid metabolism disorders.Therefore,it is often misdiagnosed as metabolic syndrome,type 2 diabetes,polycystic ovary syndrome,acromegaly,and Cushing's syndrome.Through the analysis of the diagnosis and treatment of a case of FPLD2 with acromegaly,and the importance of tracing the origin of the disease is emphasized and also does the role of genetic testing in diagnosis.It suggests that clinicians should pay attention to the fat distribution of those similar patients,and make diagnosis and treatment timely.