It is estimated that 35 million people suffer from familial hypercholesterolaemia worldwide. This condition is one of the principal causes of heart diseases like myocardial infarction and cardiac arrest. Early diagnosis helps prevent these events, and much of this prevention is in our hands. Find out what familial hypercholesterolaemia is, and what you can do to avoid serious clinical developments.
What is familial hypercholesterolaemia?
Familial hypercholesterolaemia is a disease characterised by high cholesterol levels from birth. The condition is passed down from parents to children, causing cholesterol deposits in arteries and tendons from a young age, resulting in pathological and premature buildup.
The liver is unable to remove cholesterol from the blood, leading to arterial dysfunction, inflammation and atherosclerosis at a young age. However, although this is a genetic condition, its manifestation is influenced by lifestyle, meaning that a person with familial hypercholesterolaemia can counteract the effects of the disease by adopting healthy habits.
The manifestation of this disease is exponentially serious in people who are overweight, smoke, have a diet high in saturated fatty acids or a sedentary lifestyle.
In addition, some drugs, such as contraceptive pills, oestrogen, corticosteroids, certain diuretics and antidepressants, also increase the risk of this disease.
What are the symptoms of familial hypercholesterolaemia?
Familial hypercholesterolaemia does not have any symptoms that are visible or perceptible to the patient, and the condition is only detected through blood tests or in the event of a serious clinical episode.
This disease develops silently. Cholesterol builds up in the arteries unnoticeably over a lifetime, since adolescence, causing obstruction of the arteries that carry blood to the brain, legs and heart (atherosclerosis). The first manifestations usually occur in young adults and are already severe, as a result of accumulated damage to arterial circulation.
When atherosclerosis occurs in the carotid arteries (which carry oxygenated blood to the brain), the most frequent direct consequence is stroke. When atherosclerosis 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 aortic artery (which originates directly from the heart), this can cause myocardial infarction, angina pectoris or even sudden death, especially in patients who have not received medical attention for a long time.
How is familial hypercholesterolaemia diagnosed?
Familial hypercholesterolaemia is diagnosed by collecting the patient’s family history and measuring the different cholesterol levels, and is finally confirmed through a genetic study of familial hypercholesterolaemia.
The reference ranges vary according to the method used; therefore, the results should always be interpreted by a physician.
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- or second-degree relatives with premature coronary artery disease; otherwise, the first approach is made between the ages of 12 and 14. In adulthood, this is a routine study. An early diagnosis is fundamental to diminish the mortality rate of this disease.
What is the treatment for familial hypercholesterolaemia?
Familial hypercholesterolaemia can be treated with cholesterol-lowering medication. However, once diagnosed, it is important for patients to adopt new lifestyle habits, including a healthy diet and physical activity suited to their condition. Adopting a healthy lifestyle and taking medication can help lower the cardiovascular risk.
The therapeutic objectives vary according to each patient's profile and are always assessed by a healthcare professional. Therefore, it is the physician’s responsibility to prescribe the most effective treatment for each case and provide the appropriate behavioural guidance. Usually, a diet low in animal-based saturated fats is recommended, as these have a negative effect on blood cholesterol. The consumption of fibre, found in vegetables, fruit and mixed or wholegrain cereals, should be prioritised. Furthermore, the patient should eat foods that are high in omega-3, such as sardines, mackerel, salmon and tuna.
Depending on the patient’s age and general health, regular exercise and weight control are recommended, always under professional supervision. In addition, smoking is strongly discouraged, as any type of tobacco stimulates the production of new plaque in the arteries, accelerating the development of atherosclerosis. Passive smokers are also at risk, as they are around 30% more likely to suffer a heart attack than people who are not exposed to tobacco smoke.
Alcoholic beverages are also harmful. Regular alcohol consumption accelerates arterial ageing, leading to premature arterial damage and atherosclerosis.
Joaquim Chaves Saúde in the prevention and treatment of familial hypercholesterolaemia
Preventing familial hypercholesterolaemia is vital. Joaquim Chaves Saúde is by your side to help you adjust your diet and physical exercise, in your daily life, so that your new habits become a pleasure rather than merely restrictive measures.
Treating familial hypercholesterolaemia requires multidisciplinary collaboration, including specialists in General Practice and Family Medicine (family practitioners), Internal Medicine, Cardiology, Endocrinology and Nutrition, to offer the best treatment and reduce the risk of developing cardiovascular diseases. At Joaquim Chaves Saúde, you will find permanent support you can trust, to help you control the disease and enjoy a full and healthy life. Don’t wait any longer! Schedule your appointment now.