Genetics as a risk factor for stroke
Certain genetic factors can raise your stroke risk. Genetic causes significantly contribute to ischemic stroke, especially in younger stroke patients i.e. those under the age of 45-501.
Our genes can influence stroke risk in two ways1:
- Genetic disorders that mainly cause stroke or include stroke as a complication
- Genetic mutations that increase your stroke risk or cause stroke isk factors, like high blood pressure or diabetes
Genetic disorders (disorders that cause stroke and those that include stroke as a complication)2,3
These genetic disorders mainly cause other symptoms but can lead to stroke:
Genetic blood disorders, such as:
Genetic blood vessel disorders, such as:
- Fibromuscular dysplasia
- Giant cell (or temporal) arteritis
- Hereditary hemorrhagic 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:
Genetic mutations (mutations that increase stroke risk and those that cause stroke risk factors)2,3
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 ischemic stroke. Familial amyloid angiopathy and collagen 4 mutations could cause haemorrhagic stroke.
Genetics and stroke risk: Key points
Typically, there is little that can be done about genetic mutations and disorders that raise stroke risk. 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 by reducing alcohol intake or improving sleep quality. Lifestyle changes can make a big difference in reducing risk for stroke.
References
- Amelia K Boehme, Charles Esenwa, Mitchell S.V. Elkind. Stroke Risk Factors, Genetics, and Prevention. Circ Res. 2017. Feb 3;120(3):472-495. https://doi.org/10.1161/CIRCRESAHA.116.308398
- D Uluduz, A Arsovska. Rare Causes of Stroke: A Handbook. Cambridge University Press. 2022. Sep 1. https://www.cambridge.org/gb/universitypress/subjects/medicine/neurology-and-clinical-neuroscience/rare-causes-stroke-handbook?format=PB&isbn=9781108821254
- A Bersano, M Kraemer, A Burlina, M Mancuso, J Finsterer, S Sacco, C Salvarani, L Caputi, H Chabriat, SL Oberstein, A Federico. Heritable and non-heritable uncommon causes of stroke. Journal of neurology. 2021. Aug;268:2780-807. https://doi.org/10.1007/s00415-020-09836-x