A case of dysbetalipoproteinemia: diagnostic and therapeutic strategies

IF 3.6 3区医学 Q2 PHARMACOLOGY & PHARMACY

Journal of clinical lipidology Pub Date : 2025-05-01 DOI:10.1016/j.jacl.2025.04.013

Swathi Bolneni MSHS, Adedoyin Akinlonu MD, Ann Yilmaz MSN, James Underberg MD, Astrid Jara Pernia MD, Kalyani Dhar MD

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引用次数: 0

Abstract

Background/Synopsis

Dysbetalipoproteinemia (DBL) is an underdiagnosed inherited disorder of remnant lipoprotein metabolism associated with high levels of cholesterol and triglycerides (TG). In DBL, dysfunctional apolipoprotein E (apoE) impairs LDL receptor-mediated clearance of apoB-containing lipoproteins.   

Objective/Purpose

Describe a case with dysbetalipoproteinemia including diagnosis, management and treatment. Highlight the role of specialty lipid clinics in optimizing care for patients with uncommon lipid disorders. 

Methods

Case report about dysbetalipoproteinemia.

Results

A 40-year-old male with a history of hypertension, pre-diabetes, and obesity (BMI 32) first learned he had high cholesterol in his 20s. His mother and 15-year-old son also have elevated cholesterol. He smokes four to five cigarettes intermittently and drinks two to three beers monthly.

The patient's baseline lipid values showed TG 582 mg/dL, non-HDL-cholesterol (non-HDL-C) 365 mg/dL, total cholesterol (TC) 403 mg/dL. Atorvastatin 80 mg was initiated with subsequent labs noting TG 358 mg/dL, LDL 174.3 mg/dL (Martin-Hopkins method), apoB 85 mg/dL, TC 275 mg/dL, HDL 40 mg/dL. Lp(a) was within normal limits. 

He returned to the clinic three years later, off lipid lowering therapy (LLT), complaining of firm, yellow nodules at the elbows. Labs revealed TG 764 mg/dL, non-HDL-C 515 mg/dL, TC 548 mg/dL. Atorvastatin 80 mg, non-prescribed omega-3 fatty acid 1 gram, and fenofibrate 48 mg were initiated. Biopsy confirmed xanthomas, which prompted referral to lipid clinic. 

In lipid clinic, discordance between LDL-C and apoB raised suspicion for dysbetalipoproteinemia. Genetic testing  demonstrated homozygosity for the APOE2 allele and heterozygosity for a risk variant in the APOA5 gene, consistent with familial dysbetalipoproteinemia. A non-contrast CT coronary returned with a calcium score of 38, placing him in the 93rd percentile based on age/sex. Omega-3 supplement was discontinued, and ezetimibe was added to LLT. Repeat labs demonstrated TG 340 mg/dL, non-HDL-C 149 mg/dL.  Lifestyle counseling was provided, fenofibrate discontinued. Further LDL-C/apoB lowering is being considered. 

Conclusions

Patients with suspected DBL should be seen expeditiously in specialty lipid clinics to manage lipid levels and long-term cardiovascular risk. Dysbetalipoproteinemia should be considered in patients with elevated levels of cholesterol and TG, especially if xanthomas are present. Diagnosis is supported by normal or mildly elevated apoB levels. If genetic testing confirms APOE2 homozygosity, a secondary metabolic “hit” is still needed to express DBL phenotype. Treatment of DBL focuses on lifestyle modifications, including a traditional type III diet, alcohol limitation, exercise, and weight loss. LLT should be initiated when lifestyle modifications are insufficient. 

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异常脂蛋白血症1例：诊断和治疗策略

背景/简介：异常脂蛋白血症（DBL）是一种未确诊的遗传性残余脂蛋白代谢疾病，与高水平的胆固醇和甘油三酯（TG）相关。在DBL中，功能失调的载脂蛋白E （apoE）损害LDL受体介导的含载脂蛋白的脂蛋白清除。   目的/目的描述1例血脂异常血症的诊断、管理和治疗。 强调专业脂质诊所在优化护理罕见脂质疾病患者中的作用。 方法1例血脂异常血症病例报告。结果一名40岁男性， 有高血压、糖尿病前期和肥胖病史（BMI 32），在20多岁时首次发现自己有高胆固醇。他的母亲和15岁的儿子也有高胆固醇。 他偶尔抽四到五支烟，每月喝两到三瓶啤酒。患者的基线脂质值为TG 582 mg/dL，非高密度脂蛋白胆固醇（non-HDL-C） 365 mg/dL，总胆固醇（TC） 403 mg/dL。开始阿托伐他汀80 mg，随后的实验结果显示TG 358 mg/dL， LDL 174.3 mg/dL （Martin-Hopkins法），apoB 85 mg/dL, TC 275 mg/dL, HDL 40 mg/dL， Lp(a)在正常范围内。 三年后，他停止了降脂治疗（LLT），回到诊所，抱怨 肘部有坚硬的黄色结节。实验室检测TG 764 mg/dL，非hdl - c 515 mg/dL， TC 548 mg/dL。开始阿托伐他汀80毫克，非处方ω -3脂肪酸1克，非诺贝特48毫克。活检证实黄瘤，提示转介到脂质诊所。 在脂质临床，LDL-C和载脂蛋白ob之间的不一致引起了对血脂异常血症的怀疑。 基因检测 显示APOE2等位基因的纯合性和APOA5基因的风险变异的杂合性，与家族性脂蛋白异常血症一致。 无对比CT冠状动脉钙评分38，根据年龄/性别，他处于第93百分位。停用Omega-3补充剂，并在LLT中添加依折麦布。重复实验显示TG 340 mg/dL，非hdl - c 149 mg/dL。 提供生活方式咨询，停用非诺贝特。正在考虑进一步降低LDL-C/apoB。 结论疑似DBL患者应尽快到专业血脂诊所就诊，以控制血脂水平和长期心血管风险。胆固醇和甘油三酯水平升高的患者应考虑血脂异常血症，特别是存在黄瘤的患者。 诊断支持正常或轻度升高的载脂蛋白水平。 如果基因检测证实APOE2纯合，则仍然需要二次代谢“命中”来表达DBL表型。DBL的治疗重点是改变生活方式，包括传统的III型饮食、限制饮酒、运动和减肥。当生活方式改变不足时，应开始 LLT。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of clinical lipidology 医学-药学

CiteScore

7.00

自引率

6.80%

发文量

209

审稿时长

49 days

期刊介绍： Because the scope of clinical lipidology is broad, the topics addressed by the Journal are equally diverse. Typical articles explore lipidology as it is practiced in the treatment setting, recent developments in pharmacological research, reports of treatment and trials, case studies, the impact of lifestyle modification, and similar academic material of interest to the practitioner. Sections of Journal of clinical lipidology will address pioneering studies and the clinicians who conduct them, case studies, ethical standards and conduct, professional guidance such as ATP and NCEP, editorial commentary, letters from readers, National Lipid Association (NLA) news and upcoming event information, as well as abstracts from the NLA annual scientific sessions and the scientific forums held by its chapters, when appropriate.