Michelini Sandro, Herbst Karen L, Precone Vincenza, Manara Elena, Marceddu Giuseppe, Dautaj Astrit, Maltese Paolo Enrico, Paolacci Stefano, Ceccarini Maria Rachele, Beccari Tommaso, Sorrentino Elisa, Aquilanti Barbara, Velluti Valeria, Matera Giuseppina, Gagliardi Lucilla, Miggiano Giacinto Abele Donato, Bertelli Matteo
Vascular Diagnostics and Rehabilitation Service, Marino Hospital, ASL Roma 6, 00047 Marino, Italy.
Department of Endocrinology and Research, Total Lipedema Care, Los Angeles, CA 90211, USA.
J Pers Med. 2022 Feb 11;12(2):268. doi: 10.3390/jpm12020268.
Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study was to design a next-generation sequencing (NGS) panel to help in the diagnosis of lipedema by identifying genes specific for lipedema but also genes for overlapping diseases, and targets for tailored treatments. We developed an NGS gene panel consisting of 305 genes potentially associated with lipedema and putative overlapping diseases relevant to lipedema. The genomes of 162 Italian and American patients with lipedema were sequenced. Twenty-one deleterious variants, according to 3 out of 5 predictors, were detected in , , , , , , , , , , , in 17 patients. This extended NGS-based approach has identified a number of gene variants that may be important in the diagnosis of lipedema, that may affect the phenotypic presentation of lipedema or that may cause disorders that could be confused with lipedema. This tool may be important for the diagnosis and treatment of people with pathologic subcutaneous fat tissue accumulation.
脂肪性水肿是一种致残性疾病，其特征是由于皮下脂肪沉积导致下肢和/或上肢对称性增大，且容易被误诊。脂肪性水肿可以是原发性的或综合征性的，并且可以是表型重叠疾病的主要特征。本研究的目的是设计一个二代测序（NGS）面板，通过鉴定脂肪性水肿特有的基因以及重叠疾病的基因和定制治疗的靶点，来帮助诊断脂肪性水肿。我们开发了一个由305个可能与脂肪性水肿及与脂肪性水肿相关的推定重叠疾病相关的基因组成的NGS基因面板。对162名意大利和美国的脂肪性水肿患者的基因组进行了测序。根据5种预测指标中的3种，在17名患者的、、、、、、、、、、、中检测到21种有害变异。这种基于NGS的扩展方法已经鉴定出一些可能对脂肪性水肿的诊断很重要、可能影响脂肪性水肿的表型表现或可能导致与脂肪性水肿混淆的疾病的基因变异。这个工具对于诊断和治疗病理性皮下脂肪组织堆积的人可能很重要。
