Certain genetic factors can raise your stroke risk. Genetic causes significantly contribute to ischaemic stroke, especially in younger stroke patients i.e. those under the age of 45-50. For some genetic conditions, doctors may recommend medications or procedures to reduce the increased risk of stroke¹.

Our genes can influence stroke risk in two ways^1,2:

1. Genetic disorders that mainly cause stroke or include stroke as a complication
2. Genetic mutations that increase your stroke risk or cause stroke risk factors, like high blood pressure or diabetes

Genetic disorders (disorders that cause stroke and those that include stroke as a complication) 

These genetic disorders mainly cause other symptoms but can lead to stroke:

Genetic blood disorders, such as:

• Sickle cell anaemia
• Antiphospholipid syndrome (Hughes syndrome)
• Factor V Leiden thrombophilia

Genetic blood vessel disorders, such as:

• Fibromuscular dysplasia
• Giant cell (or temporal) arteritis
• Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
• Moyamoya disease
• Sneddon syndrome
• Susac syndrome

Genetic metabolic disorders, such as:

• Cerebrotendinous xanthomatosis
• Fabry disease
• Homocystinuria
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
• Pompe disease

Genetic connective tissue disorders, such as:

• Ehlers-Danlos syndrome
• Marfan syndrome

Genetic mutations (mutations that increase stroke risk and those that cause stroke risk factors)

These single gene mutations can lead to blood vessel disorders that primarily cause stroke:

• CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)
• CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy)
• Familial amyloid angiopathy
• Collagen 4 (COL4A1) mutations

CADASIL and CARASIL largely lead to ischaemic stroke. Familial amyloid angiopathy and collagen 4 mutations could cause haemorrhagic stroke³.

Genetics and stroke risk: Key points

To reduce risk of stroke, people with certain genetic conditions may be given medication or undergo procedures to reduce risk of stroke, such as statins in some adults with silent cerebral infarcts, or blood transfusions in children with sickle cell anaemia³. If you have any of these conditions, speak with your family doctor about steps you can take to lower risk in other ways, such as stopping smoking, reducing alcohol intake or improving sleep quality. Lifestyle changes can make a big difference in reducing risk for stroke.