Articles

Genes and Stroke: Understanding Your Risk

By: Sylvain Lanthier, Neurologist at Hôpital du Sacré-Cœur de Montréal and Associate Professor, Department of Neurosciences, Université de Montréal

 

 

 

Did you know your genes can affect your risk of stroke? The good news is that even if stroke runs in your family, it doesn’t mean you’re destined to have one. Here’s how genetics and lifestyle impact your risk, and what steps you can take to protect your brain health.

 

 

 

What is a stroke?

A stroke is defined as the sudden loss of a brain function. The exact function lost depends on which part of your brain is affected:

  • Damage to the motor area of the frontal lobe may cause paralysis.
  • Damage to the visual area of the occipital lobe can cause partial vision loss.

In other words, a stroke causes a focal deficit — a problem with a specific brain function — rather than the loss of all neurological functions.

When someone has a sudden, localized neurological deficit, a physical exam can help identify the problem and locate which part of the brain is affected. Brain imaging, such as an MRI, can then confirm whether a stroke has indeed occurred and what type of stroke it is:

  • Hemorrhagic stroke: occurs when a brain artery ruptures and causes bleeding.
  • Ischemic stroke: the most common type, caused when a blood clot blocks an artery and cuts off oxygen and glucose to part of the brain, leading to brain tissue damage (a cerebral infarction).

 

What role do genes play in stroke?

Like many diseases, your risk of having a stroke depends on your unique mix of genetic makeup and lifestyle habits, such as smoking or eating lots of salty and fatty foods.

For most people, genetics plays a complex role. Many small genetic changes, each with only a tiny effect, can add up to raise your risk of stroke. This is called polygenic risk. Whether a stroke occurs depends on how these genetic variants interact with lifestyle and environmental factors.

In a small proportion of cases, a single gene mutation (called a monogenic disease) is enough to significantly increase stroke risk. Examples include CADASIL, Fabry disease, and certain mutations in the COL4A1 and COL4A2 collagen genes.

Signs that stroke risk may be linked to a strong genetic predisposition include:

  • Having a stroke at a young age
  • A family history of early strokes
  • Certain ethnic backgrounds (for example, sickle cell anemia)

 

How genes can influence stroke

Your genetics can affect your stroke risk and outcomes in several ways:

  • Whether you develop risk factors for stroke (such as high blood pressure, diabetes, high cholesterol, or obesity).
  • Whether those risk factors develop into causes of stroke (like atrial fibrillation, atherosclerosis, or cerebral amyloid angiopathy).
  • How likely you are to bleed easily or develop blood clots (called a prothrombotic state).
  • How well you respond to preventive treatments (like anticoagulants or blood pressure medications) and to emergency treatments during a stroke (like clot-busting drugs, called thrombolysis).
  • How severe a stroke may be (for example, how well your brain can tolerate a temporary lack of oxygen and glucose).
  • How well your brain can recover after a stroke (your brain’s plasticity—or ability to adapt).
  • Whether you develop complications after a stroke (such as depression or cognitive decline).

 

Preventing a stroke: what you can do

Even if you are genetically predisposed, stroke can often be prevented. Stroke prevention has three main parts:

  1. Controlling stroke risk factors — such as high blood pressure, diabetes, high cholesterol, obesity, and smoking.
  2. Using the right medications — antithrombotic drugs are used to prevent clots in ischemic stroke, while they are avoided in hemorrhagic stroke to reduce bleeding risk.
  3. Treating the underlying causes of stroke — for example, surgery to restore blood flow in carotid artery atherosclerosis. New treatments are also becoming available for some single-gene diseases like Fabry disease, ADA2 deficiency, and sickle cell anemia.

 

Key Takeaway

Your genes affect your stroke risk, but they don’t decide your future. There are things you can start doing today to protect your brain health, even if stroke runs in your family. A good first step is to talk to your doctor.

 

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Navigating Menopause: Hormone Therapy and Women’s Cardiovascular Health

Céline Fiset, B Pharm, PhD
Catherine Martel, PhD

By : (from l. to r.) Céline Fiset, B Pharm, PhD1,2 and Catherine Martel, PhD1,3

1. Research Center, Montreal Heart Institute, Montreal, Quebec, Canada  /  2. Faculty of Pharmacy, Université de Montréal, Montreal, Quebec, Canada  /  3. Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada

Atherosclerosis, the main cause of cardiovascular diseases, is characterized by elevated circulating lipid levels, an exaggerated inflammatory response, and the accumulation of cholesterol within the arterial wall. Numerous factors, whether extrinsic like lifestyle choices or intrinsic such as genetic predispositions, exert influence over the development of this chronic inflammatory condition and its acute clinical outcome across one’s lifespan. In menopausal women, the risk of cardiovascular diseases significantly escalates. Moreover, women aged 45-74 years old have a 30% higher risk of mortality from acute myocardial infarction compared to men. Menopause signals a profound juncture in a woman’s journey, marked by the natural cessation of menstruation and substantial hormonal shifts, including diminished levels of estrogen and progesterone. This hormonal decline holds significant implications for cardiovascular health. Estrogens, particularly, play a pivotal role in preserving vascular function by fostering artery dilation, regulating cholesterol levels, and imparting anti-inflammatory effects on the vascular endothelium. As a result, the decline in estrogen levels after menopause contributes to the increased cardiovascular risk in women.

As for hormone therapy, also known as hormone replacement therapy (HRT), its impact on cardiovascular risk remains under perpetual investigations. The timing of HRT initiation is crucial. Early evidence suggests that HRT might mitigate the risk of adverse cardiovascular events in women experiencing premature menopause (before 45 years old). However, recent findings from the Society of Obstetricians and Gynaecologists of Canada (SOGC) caution against commencing combined HRT a decade or more after menopause, which appears to elevate the risk of cardiovascular complications, including stroke, compared to initiating HRT early (within 10 years) and maintaining it. Nonetheless, while HRT finds indication in alleviating menopausal symptoms, it is not endorsed for cardiovascular disease prevention, notwithstanding its potential benefits on lipid profiles and vascular function.

Given these insights, it is crucial to regularly monitor the cardiovascular health of women during menopause and promptly address modifiable abnormalities, such as circulating lipid levels. Women should discuss the benefits and risks of hormone therapy with their doctor, taking into account their medical history and cardiovascular risk profile.

 

References

  1. J Obstet Gynaecol Can 2021;43(12):1444−1449
  2. Coeur et AVC Canada (https://www.coeuretavc.ca)
  3. Rapport du Système canadien de surveillance des maladies chroniques : Les maladies du cœur au Canada, 2018
  4. S. Preventive Services Task Force, Grossman DC, Curry SJ, et al. Hormone Therapy for the Primary Prevention of Chronic Conditions in Postmenopausal Women: US Preventive Services Task Force Recommendation Statement. JAMA 2017;318:2224–33.7.

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