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男性脂肪性水肿:来自巴西一家转诊中心的5例患者回顾性病例系列

Lipedema in Men: A Retrospective Case Series of Five Patients From a Brazilian Referral Center.

作者信息

Amato Alexandre C, Amato Juliana S, Benitti Daniel, Santos Keller D

机构信息

Vascular Surgery, Amato Instituto de Medicina Avançada, São Paulo, BRA.

Gynecology, Amato Instituto de Medicina Avançada, São Paulo, BRA.

出版信息

Cureus. 2025 Jul 5;17(7):e87332. doi: 10.7759/cureus.87332. eCollection 2025 Jul.

DOI:10.7759/cureus.87332
PMID:40761995
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12320917/
Abstract

Lipedema is a chronic adipose tissue disorder traditionally considered to affect almost exclusively women, with recent estimates suggesting approximately 0.2% prevalence in men worldwide; the condition remains underdiagnosed in males due to limited awareness and scarce literature. This retrospective case series from the Amato Institute of Advanced Medicine in São Paulo, Brazil, describes clinical characteristics, diagnostic findings, and treatment outcomes of five male patients diagnosed with lipedema between January 2022 and December 2024. The patients, aged 31-58 years (mean, 42.6 ± 9.7), with a BMI of 29-42.4 kg/m², all presented bilateral, symmetrical lower extremity fat accumulation, sparing the feet, with endocrine comorbidities present in 80% of cases and one participant testing positive for HLA-DQ2/DQ8. Diagnosis was based on clinical criteria requiring bilateral symmetrical fat accumulation, disproportionate fat distribution, negative Stemmer's sign, sparing of feet, and at least two minor criteria. Conservative management, including dietary interventions over four to eight weeks, resulted in mean weight reduction of 7.0 ± 2.2 kg and lower limb volume reduction of 2.5 ± 1.1 L. These findings demonstrate that lipedema occurs in men with classical phenotypic features, and the presence of HLA-DQ2/DQ8 markers in some cases suggests potential autoimmune components and opportunities for targeted dietary interventions. Conservative management yields significant short-term improvements, warranting larger prospective studies to establish prevalence, investigate HLA associations, and optimize management strategies for male lipedema.

摘要

脂肪性水肿是一种慢性脂肪组织疾病,传统上认为几乎只影响女性,最近的估计表明全球男性患病率约为0.2%;由于认识有限和文献稀缺,男性患者的这种疾病仍未得到充分诊断。巴西圣保罗阿马托高级医学研究所的这项回顾性病例系列研究描述了2022年1月至2024年12月期间诊断为脂肪性水肿的5名男性患者的临床特征、诊断结果和治疗结果。这些患者年龄在31 - 58岁之间(平均42.6±9.7岁),体重指数为29 - 42.4kg/m²,均表现为双侧对称性下肢脂肪堆积,足部未受累,80%的病例存在内分泌合并症,一名参与者HLA - DQ2/DQ8检测呈阳性。诊断基于临床标准,要求双侧对称性脂肪堆积、脂肪分布不成比例、施特默征阴性、足部未受累以及至少两个次要标准。保守治疗,包括四至八周的饮食干预,平均体重减轻7.0±2.2kg,下肢体积减少2.5±1.1L。这些发现表明,脂肪性水肿在具有典型表型特征的男性中也会发生,某些病例中HLA - DQ2/DQ8标志物的存在提示潜在的自身免疫成分以及进行针对性饮食干预的机会。保守治疗在短期内产生了显著改善,需要进行更大规模的前瞻性研究来确定患病率、研究HLA关联并优化男性脂肪性水肿的管理策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c6e/12320917/535c57b0662d/cureus-0017-00000087332-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c6e/12320917/43d74d6f44b2/cureus-0017-00000087332-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c6e/12320917/56177feb540f/cureus-0017-00000087332-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c6e/12320917/d2fd5e5d08c6/cureus-0017-00000087332-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c6e/12320917/0746cf978c43/cureus-0017-00000087332-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c6e/12320917/535c57b0662d/cureus-0017-00000087332-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c6e/12320917/43d74d6f44b2/cureus-0017-00000087332-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c6e/12320917/56177feb540f/cureus-0017-00000087332-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c6e/12320917/d2fd5e5d08c6/cureus-0017-00000087332-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c6e/12320917/0746cf978c43/cureus-0017-00000087332-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c6e/12320917/535c57b0662d/cureus-0017-00000087332-i05.jpg

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本文引用的文献

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Proposed Framework for Research Case Definitions of Lipedema.拟议的脂性水肿研究病例定义框架。
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Assessing the Prevalence of HLA-DQ2 and HLA-DQ8 in Lipedema Patients and the Potential Benefits of a Gluten-Free Diet.评估脂性水肿患者中HLA-DQ2和HLA-DQ8的患病率以及无麸质饮食的潜在益处。
Cureus. 2023 Jul 9;15(7):e41594. doi: 10.7759/cureus.41594. eCollection 2023 Jul.
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Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort.
调查“英国脂肪水肿”队列的临床特征和基因组关联。
PLoS One. 2022 Oct 13;17(10):e0274867. doi: 10.1371/journal.pone.0274867. eCollection 2022.
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Lipedema prevalence and risk factors in Brazil.巴西脂肪性水肿的患病率及风险因素。
J Vasc Bras. 2022 May 23;21:e20210198. doi: 10.1590/1677-5449.202101981. eCollection 2022.
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A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy.一种通过下一代测序策略鉴定脂性水肿易感基因变异的多基因检测板
J Pers Med. 2022 Feb 11;12(2):268. doi: 10.3390/jpm12020268.
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Lipedema and the Potential Role of Estrogen in Excessive Adipose Tissue Accumulation.脂肪水肿与雌激素在过度脂肪组织堆积中的潜在作用。
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Key signaling networks are dysregulated in patients with the adipose tissue disorder, lipedema.关键信号网络在脂肪组织紊乱疾病,脂肪水肿患者中失调。
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