Peripheral arterial disease

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

Peripheral artery disease often results from atherosclerosis, where fatty deposits build up in the walls of the arteries and reduce blood flow, potentially even blocking it. Less frequently, it can be due to inflammation in the vessels, injuries, or malformations of ligaments or muscles.

Among the non-genetic factors that can contribute to the development of the disease, the most notable are:

  • Smoking.
  • Diabetes.
  • Obesity.
  • Hypertension.
  • Hypercholesterolemia.
  • It is more common after the age of 65, although it can occur earlier in high-risk individuals.
  • High levels of homocysteine, an essential amino acid that can damage arterial walls when in excess.

Symptoms

Most people with peripheral artery disease do not have symptoms or have mild symptoms, although a percentage may experience disabling symptoms. It most commonly occurs in the lower limbs, where venous return is hindered, although it can appear anywhere in the body. Common symptoms include:

  • Painful muscle cramps in the hip and/or legs after physical activity.
  • Numbness or weakness in the legs.
  • Sensation of cold in the lower leg or foot.
  • Sores or wounds on the lower extremities that do not heal.
  • 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 artery disease is to lead a healthy lifestyle that includes:

  • Avoiding tobacco and passive exposure to its smoke.
  • Keeping diabetes under control, if you have it.
  • Exercising regularly.
  • Reducing cholesterol levels.
  • Maintaining a healthy weight.
  • Avoiding foods high in saturated fats and sugars, prioritizing fruits, vegetables, and whole grains.

Number of observed variants

13.5 million variants

Number of risk loci

18 loci

Genes analyzed

ABO C6orf15 CDKN2B CHRNA3 COL4A1 DGKZ HECTD4 KPNA2 LDLR LPA LPL MMP3 PAWR PSRC1 SMOC1 STEAP1B IL6 TCF7L2 TWIST1

Bibliography

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