Lima Josivan Gomes, Dantas Izabely Galvao Menezes, Lima Lucas Nobrega
Hospital Universitário Onofre Lopes (HUOL), Universidade Federal do Rio Grande do Norte, Av. Nilo Peçanha, 620 - Petrópolis, Natal, RN, 59012-300, Brazil.
Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.
Curr Atheroscler Rep. 2025 May 13;27(1):55. doi: 10.1007/s11883-025-01301-2.
This paper explores the diagnostic and management challenges associated with genetic lipodystrophy syndromes (LDs) and their implications for atherosclerosis and cardiovascular health.
Genetic LDs, such as familial partial lipodystrophy (FPLD) and congenital generalized lipodystrophy (CGL), are characterized by abnormal fat distribution and significant metabolic complications. FPLD patients are often misdiagnosed as having type 2 diabetes; CGL patients may die early from noncardiovascular causes, giving the impression that cardiovascular disease is not frequent. Actually, these syndromes are associated with increased cardiovascular risks and early-onset atherosclerosis. Cardiovascular disease is common in LD patients; a high level of suspicion is essential for early diagnosis and effective management of genetic LDs to mitigate associated cardiovascular risks. Continued research into innovative therapies and a better understanding of the underlying mechanisms are crucial for improving patient outcomes and alleviating the healthcare burden of these syndromes.
本文探讨了与遗传性脂肪营养不良综合征（LDs）相关的诊断和管理挑战及其对动脉粥样硬化和心血管健康的影响。
遗传性LDs，如家族性部分脂肪营养不良（FPLD）和先天性全身性脂肪营养不良（CGL），其特征为脂肪分布异常和严重的代谢并发症。FPLD患者常被误诊为2型糖尿病；CGL患者可能因非心血管原因早亡，给人一种心血管疾病不常见的印象。实际上，这些综合征与心血管风险增加和早发性动脉粥样硬化有关。心血管疾病在LD患者中很常见；高度怀疑对于遗传性LDs的早期诊断和有效管理至关重要，以减轻相关的心血管风险。持续研究创新疗法并更好地理解潜在机制对于改善患者预后和减轻这些综合征的医疗负担至关重要。
