The condition characterized by high levels of bad cholesterol in the blood affects 1% of Brazilian adults
Celebrated every year on September 24, the World Hypercolsolemia Day It aims to increase the awareness of the disease, characterized by high levels of LDL in the blood and notify the importance of early diagnosis.
Second Study conducted by researchers from the Federal University of Minas Gerais (UFMG)The condition affects about 1% of Brazilian adults – more precisely, one out of 104 adults has the possibility of having some form of family hypercholesterolemia.
Caused by a genetic alteration that compromises the functioning of a mechanism responsible for removing blood cholesterol, those born with the condition cannot efficiently metabolize cholesterol, which drastically increases the concentration of the substance in blood flow from childhood. In people without illness, the liver can regulate this excess with the help of specific receptors.
The HF is a dominant self -conscious disease and has two main forms: heterozygous, more common and homozygous, rarer and more serious. The heterozygous form occurs when the disease is inherited from one of the parents. Homozygote implies that the disease has been inherited from both parents, which translates into higher cholesterol levels and a greater risk of death.
Diagnosis: How to identify?
Although evident signs present, the underwater diagnosis of the disease is a problem in Brazil and all over the world. The ignorance of diseases and methods available for recognition are obstacles that make diagnosis difficult. “Especially in primary care, it is difficult for the professional to be suspicious that a patient has a rare disease. Unfortunately, HF is still little known and primary care professionals are not ready to recognize it and report suspicious cases,” says endocrinologist and metabologist Dr. Rodrigo de Oliveira, president of the Brazilian society of endocrinology and metabology (Sbem) between 2019 and 2020.
The detection of the disease is mainly based on the determination of cholesterol levels. The suspicion of HF exists when the concentration exceeds a certain limit, which varies according to the age of the individual. To confirm the diagnosis, blood tests and genetic tests are necessary, as well as studying the patient’s family history. In the case of the first cardiac diseases in the family, the notice is required. There are physical signs that can be observed, such as xantomas, which are leather deposits in the skin and the thickening of the tendons.
The importance of early diagnosis and possible treatments
As for the importance of the correct and early diagnosis possible, the doctor explains that the objective in the treatment of the patient with HF is to reduce the risk of cardiovascular problems and increase survival. Therefore, the treatment should be started as soon as possible. “In an attempt to postpone the effect of blood cholesterol, before is the diagnosis and the treatment begins, the better. First it is the disease, the more years of life it earns the patient,” reiterates the expert.
As for the treatment, it is mainly pharmacological. Among the most commonly used drugs to treat the HF are those that reduce the level of cholesterol in the blood (statins); those who inhibit the absorption of cholesterol; Biliary acid kidnapping and the action of the action of the microsomial transfer protein of triglycerides (MTP).
In addition, Dr. Rodrigo speaks of the importance of the screening of waterfalls, a strategy used to identify the cases of the disease in the family members of an individual already diagnosed. “It is not possible to have a single HF patient in a family. So when diagnosing a child, for example, it is necessary to find out if the disease has been approved by father or mother. Once discovered this, it is necessary to examine who else in the family – as a father or mother – also has the disease”, he explains. Cascade monitoring allows you to expand the number of diagnosis and, consequently, It allows you to make available adequate treatment to those who find the disease.
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Source: Terra
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