Familial hypercholesterolemia (FH) is one of the most common causes of coronary heart disease. It is estimated that there will be 35 million people with familial FH worldwide.
This condition is one of the main causes of heart diseases, such as myocardial infarction or cardiorespiratory arrest. Early diagnosis makes it possible to avoid these events, and a large part of prevention is in the hands of each of us.
FH is a disease that manifests itself with high cholesterol levels from birth. It is transmitted from parents to children, causing cholesterol deposits in arteries and tendons from the beginning of life, resulting in its pathological and early accumulation.
The body lacks the hepatic ability to remove cholesterol from blood plasma, leading to arterial dysfunction, inflammation, and arterial atherosclerosis at a young age. However, even though it is a genetic condition, its expression is influenced by lifestyle, which means that a person with FH can counterbalance the effects of this disease by adopting healthy habits.
The clinical expression of this disease is even more serious when eating habits rich in saturated fatty acids, smoking, a sedentary lifestyle, or being overweight are observed.
In addition, some medications, such as birth control pills, oestrogens, corticosteroids, certain diuretics, and antidepressants, also increase the risk of this disease.
FH has no visible or perceived symptoms by the patient, and the problem is only detected in blood tests or in the presence of a serious clinical event.
The disease develops silently. Cholesterol accumulates in the arteries imperceptibly throughout life, starting from adolescence, causing obstruction of the arteries that carry blood to the brain, legs, and heart (atherosclerosis). Generally, the first manifestations occur in young adults and are already serious, as a consequence of accumulated damage to the arterial circulation.
When atherosclerosis occurs in the carotid arteries (which carry oxygenated blood to the brain), the most common direct consequence is a stroke. When it occurs in the iliac or femoral arteries (which carry blood to the legs), the patient may experience pain when walking, abdominal pain, or changes in balance and speech. Finally, when the obstruction occurs in the aorta artery (which emerges directly from the heart), it can manifest itself through myocardial infarction, angina pectoris, or even sudden death, especially in patients without medical care for a long time.
The diagnosis of FH is made by collecting the patient’s clinical history, evaluating the various cholesterol levels, and finally confirmed through the genetic study of familial hypercholesterolemia. Reference values vary depending on the analysis method used, so the interpretation of the results must always be done by the doctor.
Everyone should measure their cholesterol and triglyceride levels, and this screening is increasingly recommended at younger ages. Between the ages of 2 and 4, when the child has first- and second-degree relatives with early coronary disease, or a first approach is made between the ages of 12 and 14. In adulthood, this is a routine assessment. Early diagnosis is essential to reduce mortality from this disease.
FH can be treated with drug therapy to control blood cholesterol levels. However, once diagnosed, it is important for the patient to acquire new lifestyle habits, including a healthy diet and physical activity appropriate to their condition.
Article submitted by the HPA Group
