Pandey S N, Pungavkar S A, Vaidya R A, Patkar D, Hegele R A, Sheth Frenny J, Sheth J, Shah S S, Vaidya A B
Bharatiya Vidya Bhavan's SPA Research Centre, 13th N.S. Road, Juhu, Mumbai 400 049.
J Assoc Physicians India. 2005 Oct;53:897-900.
Familial Partial Lipodystrophy, Dunnigan type (FPLD), is characterised by loss of subcutaneous fat from the limbs and an excessive accumulation of fat on the neck, shoulder girdle and face. Affected individuals have insulin resistance, dyslipidaemia and early cardiovascular events. Body composition (BC) with details of adipose tissue distribution were studied by Dual-Energy X-ray Absorptiometry (DEXA) and Magnetic Resonance Imaging (MRI) ina heterozygote for the FPLD mutation LMNA R482W, and in an age, sex and body mass index (BMI) matched normal control. DEXA revealed a marked decrease in total as well as regional fat percentage in the patient compared to a normal control. Marked reductions in subcutaneous fat in the extremities with substantial lipodeposition in the nape of the neck were confirmed with. MRI. The importance of increased perinephric, retroperitoneal and intermuscular fat in the thighs found in this patient, needs to be explored vis-à-vis the pathogenesis of insulin resistance found in FPLD.
邓尼根型家族性部分脂肪营养不良（FPLD）的特征是四肢皮下脂肪减少，颈部、肩胛带和面部脂肪过度堆积。受影响个体存在胰岛素抵抗、血脂异常和早期心血管事件。通过双能X线吸收法（DEXA）和磁共振成像（MRI）研究了携带FPLD突变LMNA R482W的杂合子以及年龄、性别和体重指数（BMI）匹配的正常对照者的身体成分（BC）及脂肪组织分布细节。与正常对照相比，DEXA显示患者的总脂肪百分比和局部脂肪百分比显著降低。MRI证实患者四肢皮下脂肪明显减少，颈部有大量脂肪沉积。该患者大腿肾周、腹膜后和肌间脂肪增加的重要性，需要结合FPLD中发现的胰岛素抵抗发病机制进行探讨。
