Peripheral artery disease is primarily caused by plaque buildup in your arteries, with risks increased by underlying medical conditions and certain lifestyle factors, but there’s also a possible genetic link.

Peripheral artery disease (PAD) has a number of known risk factors, and it can also be genetic. PAD itself is primarily caused by atherosclerosis, where a waxy substance called plaque builds up within your arteries. If you have PAD, your peripheral arteries (those that carry blood from your heart) are affected.

If you have a family member with PAD or are curious about whether you might pass PAD on to a loved one, consider the following information about genetics and this condition, as well as other important facts about its causes.

While PAD is most commonly caused by atherosclerosis, researchers also believe that there may be a hereditary link.

Your overall risk of developing PAD may be higher if you have a family history of PAD, as well as other related cardiovascular conditions, such as:

Cardiovascular disease and related conditions can run in families, too. In some people, these may be precursors to PAD.

Diabetes is another consideration. Not only does this condition run in families, but having diabetes also increases your risk of developing atherosclerosis, which can in turn lead to PAD.

Your individual risk of developing PAD may also be linked to certain genes.

One example is factor V Leiden (FVL), which is a type of gene mutation common in PAD and other atherosclerotic conditions that can lead to blood clots. FVL may increase your risk of blood clotting disorders, such as thromboembolism.

A study in 2019 found four potential exclusive PAD genetic variants, including the FVL (F5 p.R506Q) variant. Researchers evaluated their data as part of the Million Veteran Program and hypothesized a strong link between high cholesterol, genetics, and PAD.

Researchers continue to uncover specific gene mutations that might possibly be exclusively linked with PAD. For example, a 2021 study uncovered numerous possible genetic mutations associated with PAD and other related conditions. These included:

  • CDKN2BAS1
  • CHRNA3
  • HDAC9
  • PTPN11
  • SH2B3

The authors of the same study also noted that genes, along with diabetes and smoking, increased people’s risk of PAD as well.

While genetics may play a role in future PAD development, atherosclerosis remains the most common cause of this condition. At the same time, the most common lifestyle risk factor is smoking.

Other risk factors include:

  • Your age and sex: In the United States, PAD is most common in adults older than 65 years old. While PAD affects women and men equally, women are at a higher risk of complications, and men tend to experience more symptoms.
  • Race and ethnicity: Research shows that PAD is more common in African Americans and in American Indian women.
  • Related medical conditions: These include high cholesterol, high blood pressure, and a history of blood clots.
  • Other medical conditions: Examples include diabetes, kidney disease, and obesity.
  • Fibromuscular dysplasia: This condition causes a narrowing of your arteries due to cellular overgrowth within your artery walls.
  • Lifestyle: Smoking, stress, and a lack of regular physical activity can all contribute to PAD development. An unhealthy diet, especially one that’s high in saturated fats, may also increase your risk.

If you think you may be at risk of developing PAD, consider speaking with a doctor or other healthcare professional about your concerns.

Along with telling them whether you have a family history of this condition, diagnostic testing and treatment for other risk factors, such as high cholesterol and high blood pressure, can also be helpful in reducing your chances of developing PAD.

If you’re experiencing possible symptoms of PAD, you may need to see a doctor right away. Some of the most common symptoms of PAD include:

  • leg pain, which is usually worse during physical activity
  • muscle cramps in your legs, thighs, and hips
  • slow-healing ulcers in your legs and feet
  • recurring foot infections
  • legs that are cold compared with the rest of your body
  • hair loss on your legs
  • slow nail growth on your toes

When discussing PAD and genetics with a doctor, consider the additional important information:

What is the main cause of peripheral artery disease?

Atherosclerosis is the top cause of PAD. Atherosclerosis is also a main cause of coronary artery disease. With atherosclerosis, plaque builds up in your arteries, which blocks oxygen-rich blood from traveling from your heart to other parts of your body.

What are the warning signs of peripheral artery disease?

While PAD is treatable, it’s often mistaken for other conditions like diabetes and can go undiagnosed. This may lead to complications like heart attack, stroke, or leg amputation.

It’s important to get medical help if you experience possible symptoms of PAD. These include leg pain that worsens during exercise or doesn’t go away upon rest, coldness in your legs and feet, and recurring ulcers or infections in your lower extremities.

Is peripheral artery disease reversible?

There’s currently no cure for PAD, and this condition can’t be reversed. Instead, the goal is to adopt a healthy lifestyle along with a treatment plan to reduce your symptoms and prevent potential complications. Such treatments may involve medications and surgery.

What is the life expectancy of a person with PAD?

Your exact life expectancy with PAD depends on its stage. According to an observational study published in 2018, the 10-year mortality rate was 27% based on 5,080 participants. The highest 10-year mortality rate was 75% in those with PAD-related limb ischemia (blockage in your leg arteries).

To improve your overall outlook, it’s important to see a doctor if you have any risk factors for PAD. These include genetics, lifestyle factors, and underlying medical conditions.

PAD is a serious condition that may lead to complications without prompt diagnosis and treatment.

If you have a family history of PAD or its risk factors, such as diabetes, high cholesterol, or cardiovascular disease, consider speaking with a doctor about early diagnosis and management. Treating some of the risk factors of PAD may also improve your overall heart health.