Hyperlipidemia

Overview

• Hyperlipidemia is a set of metabolic disorders that can be genetic or acquired that are characterized by excess lipids in the blood which can include cholesterol and/or triglycerides. This excess causes increased fatty acid deposition which leads to blockages in the arteries. This, in turn can lead to the development of atherosclerotic plaques throughout the body and subsequent vascular disease. Genetic hyperlipidemia is mostly inherited in an autosomal dominant manner but can also be inherited in an autosomal recessive pattern. Hyperlipidemia is a general term used to identify a disease associated with excess lipids and/or fats in the body and hypercholesterolemia is one of the most common forms of hyperlipidemia.  

• The Igenomix Hyperlipidemia Precision Panel can be used to make a directed and accurate differential diagnosis of excess lipids ultimately leading to a better management and prognosis of the disease and its outcomes. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

Indication

The Igenomix Hyperlipidemia Precision Panel is indicated for those patients with clinical suspicion of inherited hyperlipidemia presenting with the following manifestations: 

• High cholesterol  
• High blood pressure  
• Symptoms of peripheral artery disease: leg discomfort, leg pain or cramps when walking, pain in the ball of the foot, foot ulcers. 
• Symptoms of stroke: sudden severe headache, weakness, numbness, loss of movement in one arm, partial vision loss, inability to speak clearly.  
• Symptoms of heart attack: chest pain, shortness of breath, sweating. 

Clinical Utility

The clinical utility of this panel is: 

• The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
• Early initiation of treatment with a multidisciplinary team for early pharmacologic therapy, dietary modifications, and primary prevention to reduce comorbidities associated with hyperlipidemia. 
• Risk assessment of asymptomatic family members according to the mode of inheritance. 

Genes & Diseases