Early-onset stroke, defined as a stroke occurring before the age of 50, can be influenced by genetic factors. While most strokes are related to lifestyle and environmental factors, several genetic conditions and variations can predispose individuals to early-onset stroke, particularly in cases where there is no clear risk factor like hypertension or smoking.
Some of the key genetic conditions include: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), Fabry Disease, Sickle Cell Disease, Ehlers-Danlos Syndrome (Vascular Type), and MELAS Syndrome (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes).
Symptoms typically include migraines that can progress to early onset stroke (eg. childhood, young adulthood, before 50 years old), cognitive decline, mood disturbances, kidney problems, skin lesions, heart disease, episodes of pain, anaemia, organ damage, muscle weakness, thin or fragile skin and blood vessels, and hearing loss.
Family History and Stroke Risk:
A family history of stroke, especially at an early age, can be a significant risk factor. Individuals with a family history of stroke are more likely to have an early-onset stroke themselves, even if no specific genetic disorder is identified. In these cases, the inheritance pattern may be complex and influenced by multiple genes.
Genetic Testing and Management:
- Genetic testing can be considered for individuals with a strong family history of early-onset stroke or those who present with stroke symptoms without clear risk factors. Testing is particularly important in diagnosing conditions like CADASIL, Fabry disease, and MELAS.
- Preventive measures: For those with genetic predispositions, early lifestyle interventions (managing blood pressure, cholesterol, and diabetes, avoiding smoking, and maintaining a healthy diet) are critical. In some cases, medications like antiplatelets, anticoagulants, or enzyme replacement therapies (for conditions like Fabry disease) may be used to reduce stroke risk.
Conclusion
Genetics play an important role in early-onset stroke, especially in cases associated with rare hereditary disorders like CADASIL, Fabry disease, and MELAS. Advances in genetic testing and personalised medicine are helping to better identify and manage individuals at risk. However, most strokes involve a combination of genetic and environmental factors, making prevention strategies focused on modifiable risk factors essential for reducing stroke incidence. Genetic testing involves a blood test. If you or your loved ones have early onset stroke, please discuss with your doctor on whether genetic testing is suitable for you.