Endocrinology Department, Centro Hospitalar São João and University of Porto Medical SchoolPorto, Portugal -
Panminerva Med. 2013 Sep;55(3):253-68.
Genetic and acquired lipodystrophies are disorders of adipose tissue distribution. In this review we will emphasize its phenotype, metabolic and genetic particularities. Special stress will be given to the most prevalent lipodystrophy ‑that associated with HIV infection - describing the similarities with congenital lipodystrophies and its pathogenic mechanisms. It will be discussed the pathways involved in development, differentiation and death of adipocytes, emphasizing that both genetic and acquired, including that associated with HIV can induce changes in adipogenesis and how the two main adipose tissue dysfunctions - obesity and lipodystrophy - can cause a similar metabolic profile (diabetes, hypertension, dyslipidemia) with increased cardiovascular risk. Rare monogenic laminopathies and other genetic lipodystrophies could be relevant to understand common pathways - physiopathology of aging, atherosclerosis process, vascular endothelial cell dysfunction, frailty syndrome and common disorders such as type 2 diabetes, insulin resistance, dyslipidemia, hypertension and metabolic syndrome. Also, some lipodystrophies can be associated with premature aging and precocious cardiovascular disease. The authors aimed to give a focus on the particularities of each of the issues addressed.
遗传性和获得性脂肪营养不良是脂肪组织分布的疾病。在这篇综述中,我们将强调其表型、代谢和遗传特征。特别强调与 HIV 感染相关的最常见的脂肪营养不良,描述其与先天性脂肪营养不良的相似之处及其发病机制。将讨论涉及脂肪细胞发育、分化和死亡的途径,强调遗传和获得性因素(包括与 HIV 相关的因素)都可能导致脂肪生成的变化,以及两种主要的脂肪组织功能障碍——肥胖和脂肪营养不良——如何导致类似的代谢特征(糖尿病、高血压、血脂异常),增加心血管风险。罕见的单基因层粘连蛋白病和其他遗传性脂肪营养不良可能与理解常见途径有关——衰老的生理病理学、动脉粥样硬化过程、血管内皮细胞功能障碍、虚弱综合征以及常见疾病,如 2 型糖尿病、胰岛素抵抗、血脂异常、高血压和代谢综合征。此外,一些脂肪营养不良可与过早衰老和早发性心血管疾病相关。作者旨在重点介绍所讨论问题的每一个方面的特点。