Division of Plastic Surgery, Department of Trauma Surgery, Orthopaedics and Plastic Surgery, University Medical Center Göttingen, Georg-August-University, Göttingen, Germany.
Molecular and Clinical Sciences Institute, St. George's University of London, London, United Kingdom; Institute of Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
J Surg Res. 2020 Sep;253:294-303. doi: 10.1016/j.jss.2020.03.055. Epub 2020 May 11.
Lipedema is a common adipose tissue disorder affecting women, characterized by a symmetric subcutaneous adipose tissue deposition, particularly of the lower extremities. Lipedema is usually underdiagnosed, thus remaining an undertreated disease. Importantly, no histopathologic or molecular hallmarks exist to clearly diagnose the disease, which is often misinterpreted as obesity or lymphedema.
The aim of the present study is to characterize in detail morphologic and molecular alterations in the adipose tissue composition of lipedema patients compared with healthy controls. Detailed histopathologic and molecular characterization was performed using lipid and cytokine quantification as well as gene expression arrays. The analysis was conducted on anatomically matched skin and fat tissue biopsies as well as fasting serum probes obtained from 10 lipedema and 11 gender and body mass index-matched control patients.
Histologic evaluation of the adipose tissue showed increased intercellular fibrosis and adipocyte hypertrophy. Serum analysis showed an aberrant lipid metabolism without changes in the circulating adipokines. In an adipogenesis gene array, a distinct gene expression profile associated with macrophages was observed. Histologic assessment of the immune cell infiltrate confirmed the increased presence of macrophages, without changes in the T-cell compartment.
Lipedema presents a distinguishable disease with typical tissue architecture and aberrant lipid metabolism, different to obesity or lymphedema. The differentially expressed genes and immune cell infiltration profile in lipedema patients further support these findings.
脂肪营养不良是一种常见的脂肪组织疾病，影响女性，其特征为下肢对称的皮下脂肪组织沉积，尤其明显。脂肪营养不良通常被误诊，因此仍然是一种治疗不足的疾病。重要的是，没有明确的组织病理学或分子特征来明确诊断该疾病，该疾病常被误诊为肥胖症或淋巴水肿。
本研究的目的是详细描述脂肪营养不良患者与健康对照组相比脂肪组织成分的形态和分子改变。使用脂质和细胞因子定量以及基因表达阵列进行详细的组织病理学和分子特征分析。对来自 10 名脂肪营养不良和 11 名性别和体重指数匹配的对照患者的解剖匹配的皮肤和脂肪组织活检以及空腹血清探针进行了分析。
对脂肪组织的组织学评估显示细胞间纤维化和脂肪细胞肥大增加。血清分析显示异常的脂质代谢，而循环脂肪因子没有变化。在脂肪生成基因阵列中，观察到与巨噬细胞相关的独特基因表达谱。对免疫细胞浸润的组织学评估证实了巨噬细胞的存在增加，而 T 细胞群没有变化。
脂肪营养不良表现出独特的疾病特征，具有典型的组织架构和异常的脂质代谢，与肥胖症或淋巴水肿不同。脂肪营养不良患者差异表达的基因和免疫细胞浸润谱进一步支持这些发现。
