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Hyperlipidemia, Genetic Testing

Hyperlipidemia refers to elevated levels of lipids in the blood, including cholesterol and triglycerides. It is a significant risk factor for cardiovascular disease. Lifestyle changes, dietary modifications, and medications are commonly used to manage hyperlipidemia and reduce the risk of heart-related complications. The assessment of the Polygenic Risk Score for hyperlipidemia is based on the examination of 44 gene polymorphisms.

Genetic testing for hyperlipidemia is included along with 14 other diseases in the Genetic Screening for Cardiovascular and Respiratory Diseases, Polygenic Risk Score.

Causes and non-genetic risk factors

Hyperlipidemias can be of genetic origin, although this only accounts for 5% of the total. The vast majority of cases are of complex origin and are usually associated with taking certain drugs or other pathologies, such as diabetes mellitus, hypothyroidism, nephrotic syndrome, or renal failure, among others.

The factors that can contribute to the appearance of hyperlipidemia are the following:

  • Unhealthy diet, rich in saturated fats, sugars, and ultra-processed foods.
  • Obesity or overweight.
  • Lack of physical exercise.
  • Smoking.
  • Habitual alcohol consumption.
  • Age is much more common after 40 years of age.

Most commonly, hyperlipidemias do not produce any symptoms and require a blood test for diagnosis. When triglyceride values are exceptionally high, they can produce episodes of abdominal pain due to pancreatitis, enlargement of the liver and spleen, and fatty rashes on the skin called xanthomas.

It is essential to keep in mind that sustained high levels of triglycerides and/or cholesterol are the leading risk factors for developing atherosclerosis and vascular accidents.


Leading a healthy lifestyle is the primary way to reduce the risk of hyperlipidemia. Preventive measures include:

  • Eating a diet low in salt and prioritizing the consumption of fruits and vegetables.
  • Limiting the amount of animal fat
  • Maintaining a healthy weight
  • Practicing regular exercise
  • Avoiding tobacco and alcohol
  • Control stress
  • If an associated disease, such as diabetes, is diagnosed, it is vital to control it well.
Additional information
Results Time4 - 5 Weeks
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