Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI.
Substrate Metabolism Laboratory, School of Kinesiology, University of Michigan, Ann Arbor, MI.
Diabetes Care. 2018 Oct;41(10):2255-2258. doi: 10.2337/dc18-0978.
Lipodystrophy syndromes are a heterogeneous group of disorders associated with selective absence of fat. Currently, the diagnosis is established only clinically.
We developed a new method from DXA scans called a "fat shadow," which is a color-coded representation highlighting only the fat tissue. We conducted a blinded retrospective validation study to assess its usefulness for the diagnosis of lipodystrophy syndromes.
We evaluated the fat shadows from 16 patients (11 female and 5 male) with generalized lipodystrophy (GL), 57 (50 female and 7 male) with familial partial lipodystrophy (FPLD), 2 (1 female and 1 male) with acquired partial lipodystrophy, and 126 (90 female and 36 male) control subjects. FPLD was differentiated from control subjects with 85% sensitivity and 96% specificity (95% CIs 72-93 and 91-99, respectively). GL was differentiated from nonobese control subjects with 100% sensitivity and specificity (95% CIs 79-100 and 92-100, respectively).
Fat shadows provided sufficient qualitative information to infer clinical phenotype and differentiate these patients from appropriate control subjects. We propose that this method could be used to support the diagnosis.
脂肪营养不良综合征是一组与脂肪选择性缺失相关的异质性疾病。目前，该诊断仅基于临床确立。
我们从 DXA 扫描中开发了一种新方法，称为“脂肪阴影”，这是一种用颜色编码表示的方法，仅突出显示脂肪组织。我们进行了一项盲法回顾性验证研究，以评估其在诊断脂肪营养不良综合征中的有用性。
我们评估了 16 名（11 名女性和 5 名男性）全身性脂肪营养不良（GL）患者、57 名（50 名女性和 7 名男性）家族性部分脂肪营养不良（FPLD）患者、2 名（1 名女性和 1 名男性）获得性部分脂肪营养不良患者和 126 名（90 名女性和 36 名男性）对照者的脂肪阴影。FPLD 与对照组的区分具有 85%的敏感性和 96%的特异性（95%CI 分别为 72-93 和 91-99）。GL 与非肥胖对照组的区分具有 100%的敏感性和特异性（95%CI 分别为 79-100 和 92-100）。
脂肪阴影提供了足够的定性信息，可以推断出临床表型，并将这些患者与适当的对照组区分开来。我们建议该方法可用于支持诊断。
