This is one of the leading causes of premature coronary artery disease, even occurring under the age of 30, and increases the risk of myocardial infarction by 10–20 times compared with those without the disease. Therefore, patients with FH are classified in the very high-risk group for cardiovascular diseases.
Notably, this condition often shows no symptoms in its early stages, with most patients completely unaware until the first cardiovascular event occurs. Furthermore, FH is not a rare disease. In Vietnam, its prevalence is estimated at about 1 in 200 people. However, the average age of diagnosis is still late (51.8 years according to a study published in 2025).
Dr. Pham Thu Thuy, – Clinical & Interventional Cardiology Department, Hanoi French Hospital, explained: “This is an autosomal dominant disorder, meaning a patient only needs to inherit one abnormal gene copy from either parent. Therefore, if one family member is diagnosed with FH, the chance of each first-degree relative (parents, siblings, children) also having the disease is 50%.”
According to estimates by the World Health Organization (WHO), more than 90% of FH patients remain undiagnosed.
The European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS) therefore recommend implementing “cascade screening” – lipid testing and, when necessary, genetic screening for all first-degree relatives of an affected patient. This strategy helps in early detection and timely treatment, significantly reducing the risk of cardiovascular events for the entire family.
Treatment of FH should begin as early as possible, even from adolescence if confirmed by genetic testing. Patients are usually prescribed high-intensity statins, which may be combined with ezetimibe or PCSK9 inhibitors to reach LDL-c targets, along with lifestyle modifications to manage the disease. The LDL target for FH patients is much lower than the recommended threshold in the general population.
At Hanoi French Hospital, the diagnosis and treatment of familial hypercholesterolaemia are carried out in accordance with the latest ESC and EAS guidelines. Patients undergo comprehensive cardiovascular risk assessment, regular lipid testing, genetic confirmation, and personalized treatment regimens. The “cascade screening” strategy is also applied so that family members of patients have the opportunity for early detection and timely intervention.
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