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Peripheral Artery Disease, Genetic Testing

Peripheral artery disease (PAD) is a circulatory pathological condition in which narrowed arteries reduce blood flow to the extremities, most commonly to the legs. Symptoms may include pain, cramps, and weakness. Lifestyle changes, medications, and, in severe cases, surgeries are used to manage PAD and improve circulation. The assessment of the Polygenic Risk Score for peripheral artery disease is based on examining 18 gene polymorphisms.

Genetic testing for peripheral artery disease 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

Peripheral arterial disease is often caused by atherosclerosis, in which fatty deposits accumulate on the walls of the arteries, reducing blood flow and even blocking it. Less frequently, it may be due to inflammation in the vessels, injuries, or malformations of ligaments or muscles.

Among the non-genetic factors that may contribute to the development of the pathology, the following stand out:

  • Smoking.
  • Diabetes.
  • Obesity.
  • Hypertension.
  • Hypercholesterolemia.
  • It is more common after age 65, although it can occur earlier in people at high risk.
  • High homocysteine levels, an essential amino acid, can excessively damage arterial walls.

Most people with peripheral arterial disease have no or mild symptoms, although a percentage may have disabling symptoms. It most commonly occurs in the lower limbs, where venous return is impeded, although it can occur anywhere in the body. The most common symptoms include:

  • Painful muscle cramps in the hips and/or legs after physical activity.
  • Numbness or weakness in the legs.
  • Cold sensation in the lower leg or foot.
  • Non-healing sores or wounds on the lower extremities.
  • Change in skin color.
  • Shiny skin on the legs.
  • Lack of pulse or weak pulse in the affected area.

The best way to prevent peripheral arterial disease is to lead a healthy lifestyle that includes:

  • Avoiding smoking and passive exposure to tobacco smoke.
  • Keeping diabetes under control, if you have it.
  • Exercising regularly.
  • Reducing cholesterol levels.
  • Maintain a healthy weight.
  • Avoid consumption of foods rich in saturated fats and sugars, prioritizing fruits, vegetables, and whole grains.
Additional information
Results Time4 - 5 Weeks
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