Peripheral arterial disease

Peripheral arterial disease (PAD) is a condition caused mainly by the formation of fatty deposits (known as atheromas) along the walls of the arteries that carry blood. As a result, the vessels become narrowed and can become blocked, affecting blood circulation, especially in the legs and feet, but it can affect any part of the body.

Peripheral arterial disease is often caused by atherosclerosis in which fatty deposits accumulate on the walls of the arteries and reduce blood flow and may even block 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 the age of 65, although it can occur earlier in people at high risk.
  • High levels of homocysteine, an essential amino acid but which in excess can damage arterial walls.

Symptoms

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.

Prevention

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.

Number of observed variants

13.5 million variants

Number of risk loci analyzed in the study

18 loci

Bibliography

Klarin D, Lynch J, Aragam K, et al. Genome-wide association study of peripheral artery disease in the Million Veteran Program. Nature Medicine. 2019 Aug;25(8):1274-1279.

Mayo Clinic [March 2022]

Centers for Disease Control and Prevention (CDC) [March 2022]

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