部分脂肪萎缩综合征2型一例报道及文献复习

Partial lipodystrophy type 2: One case report and literature review

家族性部分脂肪萎缩综合征2型(familial partial lipodystrophy type 2, FPLD2)是LMNA基因突变导致的常染色体显性遗传病,以青春期发病的选择性皮下脂肪缺失伴胰岛素抵抗等代谢异常为特征。严重胰岛素抵抗可引起黑棘皮样变、假性肢端肥大症、卵巢功能异常、糖脂代谢紊乱等。因此其常被误诊为代谢综合征、2型糖尿病、多囊卵巢综合征、肢端肥大症及库欣综合征等。本文通过分析1例表现为类肢端肥大症的FPLD2患者的诊疗经过,强调对疾病追根溯源的重要性,突出基因检测在疾病诊断中的作用,提示临床上对类似患者应注意脂肪分布,及时诊断治疗。

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.