Several months ago, unusual headaches and nausea led the young man to the hospital, where doctors discovered he had cerebral venous thrombosis. Typically, strokes caused by blood clots occur in arteries, a consequence of aging blood vessels, exacerbated by lifestyle and underlying diseases. But with a blood clot in an unusual location like a cerebral vein and in a young person, Dr. Phan Truc of the Hematology - Rare Genetic Diseases Unit at Vinmec Central Park International General Hospital, believed "it could hardly be a coincidence" and needed to understand the cause and mechanism of formation.

Reviewing the family's medical history, Dr. Truc noted a crucial detail: the patient's father also suffered a stroke at 50 despite having no cardiovascular risk factors. In-depth genetic testing solved the puzzle. The father carried a gene mutation affecting Protein S function, making the body prone to blood clots. The young man not only inherited this mutation but also received the MTHFR variant from his mother, increasing homocysteine in his blood - a compound linked to blood vessel damage. The combination of these two genetic factors created a "perfect storm," causing a blockage at a very young age, Dr. Truc observed.

The doctor diagnosed the patient with a genetically induced stroke, prescribing mandatory lifelong anticoagulant medication and close monitoring, because as age increases, blood vessels weaken, and the risk of blockage increases accordingly.

This patient's story is not unique. Dr. Truc has encountered numerous stroke cases where the culprit was not high blood pressure or atherosclerosis, but the genes they carry. A 55-year-old woman was hospitalized for an ischemic stroke. Initial tests only showed a slight increase in platelets, an indicator easily overlooked. But with deeper genetic screening, the doctor discovered the JAK2 V617F mutation, characteristic of myeloproliferative neoplasms, which increases both the number and function of platelets, leading to blockages.

These cases demonstrate that genetic factors can exist silently for years without symptoms, waiting for favorable conditions to trigger a serious vascular event.

Stroke is a sudden, rapidly progressing disease with severe complications. Photo: Health

Stroke is a sudden, rapidly progressing disease with severe complications. Photo: Health

In fact, the link between genes and stroke has been scientifically recognized. According to a meta-analysis in the journal Stroke, about 15% of stroke patients have a family history of the disease. Studies have identified many related genes. For example, a 2016 Boston University study identified the FOXF2 gene as increasing the risk of stroke due to small vessel disease. Other genes such as NINJ2 and WNK1 have also been identified as playing a role in blood pressure control and brain injury recovery.

However, Dr. Hoang Tien Trong Nghia, Head of the Department of Neurology at 175 Military Hospital, said that not everyone with a relative who has had a stroke has a genetic predisposition. Sometimes, family members simply share an unhealthy environment and lifestyle - high salt intake, lack of exercise, smoking, obesity - which are the leading risk factors. Determining whether a stroke is hereditary requires genetic screening, not guesswork.

Dr. Truc said genetic testing not only helps find the cause when a patient has already had a stroke, but also opens up opportunities for prevention for those who have not yet developed the disease but are at high risk. Early detection of abnormalities such as Protein S, MTHFR, JAK2, or other blood clotting genes allows doctors to personalize treatment, choose drugs appropriate to the disease mechanism, and detect potential hematological diseases that are difficult to identify through routine health checkups. This also helps guide long-term prevention through lifestyle changes and close monitoring.

However, stroke genetic screening is not recommended for everyone. Genetic testing has different purposes in each specific case. Dr. Truc advises those with a family history of stroke at a young age or of unknown cause, those who have experienced early thrombosis, or those in the medium-to-high cardiovascular risk group (high blood pressure, blood lipid disorders, obesity, diabetes) to consider genetic screening.

While genetic factors cannot be changed, everyone can reduce their risk through a healthy diet (reducing salt, limiting saturated fat, increasing vegetables and fruits), maintaining at least 150 minutes of exercise per week, keeping BMI between 18.5 and 24.9, and adhering to treatment for underlying diseases.

Thuy Quynh