Cholesterol and the heart: discover your cardiac risk with genetic testing

What is cholesterol and what is its purpose?

Cholesterol is a substance that is naturally present in the blood and tissues of the human body. It is partly produced by the body itself and partly assimilated through food.
Cholesterol is essential for several functions, including the production of cell membranes and is, therefore, essential for the proper functioning of the body.

What’s the difference between good and bad cholesterol?

There are several types of cholesterol, including:

  • LDL cholesterol (low-density lipoprotein, referred to as bad cholesterol), can accumulate on the walls of the arteries, increasing the risk of cardiovascular disease.
  • HDL cholesterol (high-density lipoprotein, referred to as good cholesterol), is essential for the transport of cholesterol molecules through the bloodstream, to the liver where they are metabolized.

Why does bad cholesterol increase?

A sedentary lifestyle and an unbalanced diet characterised by a high fat intake are factors that influence LDL cholesterol levels in the blood. Foods high in saturated fat, such as butter, palm oil, lard, sausages, processed meats and mature cheeses, contribute to increasing LDL cholesterol levels and represent cardiovascular risk factors.

Other factors that can contribute to the increase in bad cholesterol include excessive alcohol consumption, the use of certain drugs, diabetes, liver and kidney disorders as well as an individual’s genetic predisposition to cardiovascular disease.

What are the cardiovascular risk factors?

Cardiovascular risk factors can be classified into two groups, modifiable and non-modifiable risk factors.

Modifiable risk factors:

  • Dyslipidemia,
  • Diabetes mellitus,
  • Arterial hypertension,
  • Obesity,
  • Smoking,
  • A sedentary lifestyle.

Another modifiable risk factor is the correlation between cholesterol and cardiovascular risk. Hypercholesterolaemia promotes the development of atherosclerosis, a multifactorial degenerative disease, which affects the medium and large arteries with a consequent reduction in the blood supply to the tissues.
Early diagnosis and treatment of dyslipidaemia are essential in the prevention of cardiovascular disease. Containing hypercholesterolaemia within physiological limits can significantly reduce the risk of cardiovascular and atherosclerotic events.

Non-modifiable risk factors:

  • Age: the risk of cardiovascular disease increases progressively with age. In the elderly, age becomes the predominant risk factor.
  • Gender: according to studies, the risk increases in women after menopause. This protective effect appears to be due to oestrogen, which promotes higher levels of HDL cholesterol than in men.
  • Family history: the risk of cardiovascular disease is higher when relatives have experienced heart disease. The risk increases with the degree of kinship, the number of affected relatives and the age at which the disease occurs.

Genetic Score Test: the screening test to assess hereditary cardiovascular risk

Through a blood sample or a salivary sample, it is possible to obtain important information on the risk of developing cardiovascular diseases, allowing you to implement personalised preventive strategies by addressing risk factors.

The Genetic Score test allows the patient to find out their risk of developing a series of diseases, including:

  • Coronary heart disease,
  • Atrial fibrillation,
  • Hypertension,
  • Lipid profile (triglycerides, HDL, LDL).

In the field of cardiology, too, genetics are at the root of the onset of many diseases, and today, thanks to the possibility of obtaining a personalised genetic diagnosis, each patient can learn about their risk of developing specific heart diseases over time and, as far as possible, prevent them.

Genetic Cardio: the genetic test for the diagnosis of hereditary cardiovascular diseases

The Genetic Cardio test is a genetic test aimed at finding the genes associated with congenital heart disease. Through the sequencing of the complete exome (the entire DNA that regulates the functioning of our body), we analyse genes known to be related to:

  • Primary and metabolic cardiomyopathies,
  • Channelopathy – Arrhythmias,
  • Syndromes with vascular and cardiac implications,
  • RASopathies,
  • Other risk factors (ischaemic heart disease).

The Genetic Cardio test is carried out on a blood sample or a saliva sample. If you take this test, you will find out your genetic risk for hereditary cardiovascular disease and you will be able to adopt the right preventive strategies.

Dr Angela Marano
Specialist in Pathology and Clinical Biochemistry

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