Early detection of severe hypertriglyceridemia using teleconsultation in a clinical laboratory setting

Teresa Arrobas-Velilla , María José Ariza , Miguel Ángel Rico-Corral , Pedro Valdivielso
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Abstract

Background

Teleconsultation in the context of clinical laboratories is a valuable tool for the early detection of dyslipidemia and prevention of cardiovascular risk. Here, we describe a patient who was referred to the Lipid Unit of the Virgen Macarena Hospital due to an alert for severe hypertriglyceridemia through its teleconsultation program.

Case presentation

A comprehensive clinical and biochemical study of the patient was carried out, and genetic testing was performed on the patient and his family. The proband and his family showed mild to severe hypertriglyceridemia and various secondary factors, together with a genetic background associated with a triglyceride-raising effect.

Conclusion

This extensive study has identified a family at high risk of cardiovascular disease and acute pancreatitis. These findings can help maximize lifestyle changes and improve the clinical management of their dyslipidemia.
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在临床实验室环境中利用远程会诊早期发现严重的高甘油三酯血症
背景临床实验室的远程会诊是早期发现血脂异常和预防心血管风险的重要工具。在此,我们描述了一名通过远程会诊项目被转诊到圣玛卡莱娜医院血脂科的患者。病例介绍 对患者进行了全面的临床和生化研究,并对患者及其家人进行了基因检测。原发性高甘油三酯血症及其家人表现出轻度至重度高甘油三酯血症和各种继发性因素,以及与甘油三酯升高效应相关的遗传背景。这些发现有助于最大限度地改变生活方式,改善血脂异常的临床治疗。
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