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患有多基因局部脂质疏松症的女性的临床和成像特征:一个病例系列

Wann Jia Loh^1,2, Jadegoud Yaligar³, Amanda J Hooper^4,5

¹Department of Endocrinology, Changi General Hospital, Singapore, Singapore. loh.wann.jia@singhealth.com.sg.

Nutrition & diabetes

|February 6, 2024

概括

家族性局部脂质变 (FPLD) 是一种遗传性疾病,导致代谢疾病. 减少大腿脂肪和增加干部与腿部脂肪比率可能有助于识别FPLD1,其特点是下肢脂肪损失和早期糖尿病发病.

科学领域:

内分泌学在内分泌学.
遗传学是一个遗传学.
代谢障碍代谢障碍代谢障碍

背景情况:

亲属部分脂质变 (FPLD) 是一种遗传性疾病,影响白色脂肪组织,导致过早的心脏代谢疾病.
由于缺乏明确的诊断标准,可能导致FLPD的低检测.

研究的目的:

描述被诊断患有FPLD的妇女的临床特征.
评估脂肪组织测量对FLPD诊断的有用性.

主要方法:

这项研究涉及8名患有FPLD的妇女和4名对照.
测量包括皮厚度,双能X射线吸收度 (DXA) 和全身磁共振成像 (MRI).
进行了全基因组测序,以排除单基因原因.

主要成果:

多基因分数表示FPLD类型1. 在FPLD组中,糖尿病诊断年龄平均为31岁.
与对照组相比,FLPD患者表现出胰岛素耐药性增加 (HOMA-IR) 和大腿皮厚度显著降低.
在FPLD组中,DXA显示腿部脂肪的百分比较低,干与腿部脂肪的比率增加. 磁力共振成像显示,股骨和小腿区域皮下脂肪组织 (SAT) 减少.

结论:

在新加坡,患有FPLD1的女性经历了下肢脂肪组织的显著损失,先前的肌肉组织损失和早期发病的糖尿病.
腿部皮厚度降低和干与腿部脂肪百分比升高 (用DXA测量) 是识别FPLD1.1的潜在临床标志物.

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