One of the risk factors for cardiovascular disease is . The control of LDL (bad cholesterol) and HDL (good cholesterol) indices is one of the concerns of health workers, both in primary care and in other medical specialties.
Issues such as diet, exercise or other lifestyle habits directly influence cholesterol levels.
But there are people in whom high cholesterol is something that occurs from birth.
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We are talking about familial hypercholesterolemia, a genetic disease that is transmitted to 50% of the offspring and that causes an increase in bad cholesterol levels from birth.
According to data from the (FHF) each year some 1,600 children are born in Spain with this disease, which affects some 200,000 people, of whom 30,000 are children.
As we have already seen, the main characteristic of familial hypercholesterolemia is the increase in cholesterol from birth, which means that these minors have a 20 times greater risk of suffering from premature cardiovascular disease.
Therefore, early diagnosis and treatment is essential because, according to the president of the FHF, the Dr. Pedro Mata. If not detected in time, the life expectancy of the person who suffers from them can decrease by 20 to 30 years compared to the general population.
However, the executive secretary of the Foundation, Dr. Mª Teresa Parientewarns that, being a silent disease, “the majority” of patients with familial hypercholesterolemia do not know about it.
Heel prick is key to detect familial hypercholesterolemia
And early detection is precisely one of the main concerns of specialists in familial hypercholesterolemia since, without it, people with this disease can present a myocardial infarction at young ages.
Therefore, this pathology represents a public health problem due to the high burden of cardiovascular morbidity and the high personal and health cost that it entails, “for which reason its detection and treatment must be mandatory for the health system”, recalls Dr. Mata .
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The most effective and cheapest way to detect familial hypercholesterolemia is to measure cholesterol levels immediately after birth. And this would be possible if this study parameter were included in the popular heel test that babies are subjected to before leaving the hospital.
Through this, 4-5 cases can be detected for every 1,000 newborns and 4-5 parents, since one of the parents would also be a carrier of this pathology.
From this neonatal screening, the cascade analysis of the rest of the family could be carried out.
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In fact, specialists consider that, compared with other neonatal screenings for endocrine-metabolic diseases, the detection of familial hypercholesterolemia in the newborn would be the most frequent disorder in screenings currently carried out.
This has led the Family Hypercholesterolemia Foundation to request the health administrations to screen newborns to detect this pathology. Meanwhile, a pilot study is being carried out in two hospitals in Andalusia, the results of which will be presented shortly.
When we talk about older children, a simple blood test can detect the disease.
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“To diagnose the disease we only need to perform a blood test: if the cholesterol is high, we ask the family and, if there are other relatives with high cholesterol, we are probably dealing with a case of FH”, explains the doctor.
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The criteria for suspicion are having a total cholesterol greater than 220 mg/dL and LDL-cholesterol greater than 150 mg/dL.
Once the problem is detected, the basic treatment used is statins.
SEFAHEART study, a work of “national pride”
Spain, through Family Hypercholesterolemia Foundationis a pioneer in disease research and also plays an important role internationally with the SAFEHEART study patient registry.
32 hospitals of the National Health System from most of the communities participate in it, and thanks to the 43 detection days that the organization has carried out on different weekends, data has already been provided on 5,500 people, belonging to more than 1,000 families with this disease.
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“It is a study of national pride with international repercussions. It started in 2004 and grew rapidly as a result of the disease detection sessions that were held on weekends”, states Dr. Mata.
In addition, thanks to this study, for the first time, patients with familial hypercholesterolemia have a cardiovascular risk algorithm with which it is possible to predict, with an accuracy of up to 85%, the risk they have of developing cardiovascular disease in the next 5 or 10 years.
“If we want to advance in the knowledge of a pathology, we need studies of this type, population studies with long-term follow-up because they help us to evaluate which are the best treatments, to know if the people who are best treated avoid developing cardiovascular disease, and provides the Health Administration with cost-effectiveness data on what it means to carry out a health intervention such as early detection of FH”, stresses the president of the FHF.
Thus, for every 6 adults with HF that are detected and receive adequate treatment, one is prevented in the following 10 years.
In total, 30,000 coronary episodes could be prevented, with the high personal and health cost they represent, over the next decade.