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严重高甘油三酯血症所致发疹性黄瘤的皮肤表现:1例凸显诊断和治疗挑战的病例报告

Cutaneous Manifestation of Eruptive Xanthoma as a Consequence of Severe Hypertriglyceridemia: A Case Report Highlighting Diagnostic and Therapeutic Challenges.

作者信息

Morka Jeremi, Morajko Aleksandra, Otulak Sylwia, Zarańska Karolina, Wąsik Grażyna

机构信息

Medicine, University of Opole, Opole, POL.

Dermatology, Provincial Hospital of Opole, Opole, POL.

出版信息

Cureus. 2025 Feb 1;17(2):e78329. doi: 10.7759/cureus.78329. eCollection 2025 Feb.

DOI:10.7759/cureus.78329
PMID:40034640
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11875218/
Abstract

Eruptive xanthomas are clinical manifestations of lipid-laden foam cells in the dermis. The morphological subtype and anatomical location of xanthomas can provide insight into the underlying lipid disorder. Hyperlipidemia, a common condition in the general population, is categorized as primary or secondary depending on disruptions in endogenous or exogenous lipoprotein pathways.  We describe the case of a 29-year-old female with severe obesity who presented with numerous yellow papules on the trunk, buttocks, and extensor surfaces of the lower limbs, persisting for three months without subjective symptoms. Examination revealed inflammatory halos around some of the lesions. Dermoscopy showed irregularly shaped, light-yellow areas on a dense, yellowish background. Laboratory investigations revealed extreme hypertriglyceridemia (>4000 mg/dL), elevated total cholesterol (>1000 mg/dL), reduced high-density lipoprotein (HDL) and low-density lipoprotein (LDL) levels and undetectable aminotransferase levels. The patient met the criteria for metabolic syndrome and was newly diagnosed with diabetes mellitus.  A diagnosis of eruptive xanthomas was made, linked to impaired triglyceride clearance and hepatic overproduction of triglyceride-rich lipoproteins secondary to diabetes, obesity, excessive caloric intake, and oral contraceptive use. The Fredrickson classification system identified hypertriglyceridemia as part of types I, IV, and V hyperlipoproteinemia.  This case highlights the significance of a comprehensive diagnostic approach in patients with xanthomas, taking into account associated risk factors, family history, and lipoprotein abnormalities for early detection. Prompt treatment can lead to the complete resolution of eruptive xanthomas and prevent fatal complications such as acute pancreatitis.

摘要

发疹性黄瘤是真皮中充满脂质的泡沫细胞的临床表现。黄瘤的形态亚型和解剖位置可以为潜在的脂质紊乱提供线索。高脂血症在普通人群中很常见,根据内源性或外源性脂蛋白途径的紊乱分为原发性或继发性。我们描述了一名29岁严重肥胖女性的病例,她的躯干、臀部和下肢伸侧出现了大量黄色丘疹,持续三个月且无主观症状。检查发现一些皮损周围有炎性晕。皮肤镜检查显示在密集的淡黄色背景上有不规则形状的淡黄色区域。实验室检查显示极度高甘油三酯血症(>4000mg/dL)、总胆固醇升高(>1000mg/dL)、高密度脂蛋白(HDL)和低密度脂蛋白(LDL)水平降低以及氨基转移酶水平检测不到。该患者符合代谢综合征标准,新诊断为糖尿病。诊断为发疹性黄瘤,与糖尿病、肥胖、热量摄入过多和口服避孕药导致的甘油三酯清除受损及肝脏过度产生富含甘油三酯的脂蛋白有关。弗雷德里克森分类系统将高甘油三酯血症确定为I型、IV型和V型高脂蛋白血症的一部分。该病例强调了对黄瘤患者采用综合诊断方法的重要性,并考虑相关危险因素、家族史和脂蛋白异常以进行早期检测。及时治疗可使发疹性黄瘤完全消退,并预防急性胰腺炎等致命并发症。

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本文引用的文献

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Eruptive Xanthomas Precipitated by Severe Hypertriglyceridemia From Diabetes and Alcohol Use.
由糖尿病和饮酒导致的严重高甘油三酯血症引发的发疹性黄瘤
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