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Unmasking a Rare Genetic Mutation: The Importance of Genetic Testing in Refractory Hypertriglyceridemia.

AACE Clin Case Rep

August 2024

Department of Endocrinology, Endocrine Associates of West Village, New York City, New York.

Background/objective: Genetic causes of hypertriglyceridemia like familial chylomicronemia syndrome can be overlooked in everyday practice. We report a patient with a rare genetic mutation, highlighting the importance of genetic testing for timely diagnosis and prevention of complications.

Case Report: A 45-year-old Hispanic female presented with serum triglyceride levels of 749 mg/dL, refractory to rosuvastatin 10 mg daily and omega-3 ethyl esters 2 g daily.

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Antithrombotic medications, including antiplatelet agents, are standard treatments for patients with hyperlipidemia who have a high risk of developing cardiovascular disease (CVD). The ongoing exploration of new antiplatelet agents with minimal bleeding effects is crucial, including the investigation of potential compounds derived from natural products. This study intended to evaluate the antiplatelet effects of a combined extract of sappan wood ( L.

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Background: High triglyceride (TG) affects and is affected of other hematological factors. The determination of serum fasted triglycerides concentrations, as part of a lipid profile, is crucial key point in hematological factors and significantly affect various systemic diseases. This study was carried out to assess the potential relation between the concentration of TG and hematological factors.

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Objective: The aim of this study is to evaluate diet quality and other associated factors with dyslipidaemia in cardiovascular disease (CVD) patients in Bangladesh.

Design: The study employed a cross-sectional design.

Setting: Data from medical records, dietary intake and socioeconomic factors were collected from January to October 2022 at the National Institute of Cardiovascular Disease, Dhaka, and Noakhali Sadar Hospital.

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