UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.
Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.
Cells. 2023 Feb 24;12(5):725. doi: 10.3390/cells12050725.
Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to pathogenic variants in the gene. Its rarity implies that it is not well-known. The aim of this review was to explore the published data regarding the clinical characterisation of this syndrome in order to better describe FPLD2. For this purpose, a systematic review through a search on PubMed until December 2022 was conducted and the references of the retrieved articles were also screened. A total of 113 articles were included. FPLD2 is characterised by the loss of fat starting around puberty in women, affecting limbs and trunk, and its accumulation in the face, neck and abdominal viscera. This adipose tissue dysfunction conditions the development of metabolic complications associated with insulin resistance, such as diabetes, dyslipidaemia, fatty liver disease, cardiovascular disease, and reproductive disorders. However, a great degree of phenotypical variability has been described. Therapeutic approaches are directed towards the associated comorbidities, and recent treatment modalities have been explored. A comprehensive comparison between FPLD2 and other FPLD subtypes can also be found in the present review. This review aimed to contribute towards augmenting knowledge of the natural history of FPLD2 by bringing together the main clinical research in this field.
2 型家族性部分脂肪营养不良（FPLD2）是一种层粘连蛋白病性脂肪营养不良，由 基因的致病性变异引起。由于其罕见性，人们对它的了解并不多。本综述的目的是探讨已发表的关于该综合征临床特征的资料，以便更好地描述 FPLD2。为此，我们进行了一次系统的文献检索，检索了 PubMed 上截至 2022 年 12 月的资料，并对检索到的文章的参考文献进行了筛选。共纳入了 113 篇文章。FPLD2 的特征是女性青春期前后开始失去脂肪，影响四肢和躯干，脂肪在面部、颈部和腹部内脏堆积。这种脂肪组织功能障碍导致与胰岛素抵抗相关的代谢并发症的发展，如糖尿病、血脂异常、脂肪肝疾病、心血管疾病和生殖障碍。然而，已经描述了很大程度的表型变异性。治疗方法针对相关的合并症，并且已经探索了最近的治疗方式。本综述还对 FPLD2 与其他 FPLD 亚型进行了全面比较。本综述旨在通过汇集该领域的主要临床研究，为增加对 FPLD2 自然史的认识做出贡献。
