“Bad” Cholesterol: Why It Is So Important To Pay Attention To The Number 190

A number in the results of a routine laboratory examination serves to call for early attention to a health problem that runs in families and, without treatment, progresses rapidly and increases the risk of serious and premature cardiovascular complications: the familial hypercholesterolaemia (HF), a genetic condition that prevents the body from getting rid of LDL or “bad” cholesterol so that it does not accumulate in the form of plaques (atheromas) on the artery walls.

“An LDL cholesterol level above 190 mg/dL should warn biochemists and physicians that we are dealing with severe hypercholesterolemia and that, by ruling out other causes, it is necessary to check if it is of family genetic origin. But the main goal, whatever the cause, is to get patients into treatment,” he says. Laura Schreierhead of the Lipids and Atherosclerosis Laboratory of the Department of Clinical Biochemistry of the Faculty of Pharmacy and Biochemistry from University of Buenos Aires (UBA). The lab works in Hospital of Clinics.

It is estimated that there are more than 150,000 Argentines who use HF . would have, according to the specialist the most common hereditary genetic disorder. It is manifested by the presence of mutations in one of the three main genes involved in the breakdown of low-density lipoproteins (LDL) responsible for the transport of cholesterol. This increases the concentration in the blood. The level matters because LDL crosses the arterial wall and promotes the formation of atheroma, which causes atherosclerosis leading to cardiovascular disease.

That is the importance of its timely detection to indicate adequate treatment next Saturday, with the approval of the World Health Organisationwill try to create awareness in this regard through a new World Day for Familial Hypercholesterolemia.

There are other causes that can generate a similar clinical picture. To distinguish it, genetic diagnosis or a clinical risk rating scale can be used. “If LDL levels are high, even if they do not meet the clinical or genetic diagnosis of FH, it is necessary to treat the same [al paciente]. From 2000 they designedtherapies that succeed in lowering LDL levels to very low levels, which are needed in these cases to reduce cardiovascular risk says Schreier. The physician should classify the patient’s risk as low, moderate, high, or very high, and in each case indicate appropriate treatment to achieve LDL cholesterol goals.

In patients with HF, who are at high or very high risk, the target is indicated to be less than 70 or 50 mg/dL in blood, according to biochemistry. And he immediately clarifies that this is not achieved by the use of statins alone, but is associated with other drugs that allow intensive lowering of LDL cholesterol.

“The problem with HF is that it is underdiagnosed and therefore undertreated, even when associated with the premature development of atherosclerosis,” added Schreier, who is also a vice dean and professor at the UBA School of Pharmacy and Biochemistry. “In patients who may be asymptomatic, persistently elevated cholesterol is often unexplored and untreated, associated with cardiovascular complications such as myocardial infarction and high mortality.

Con Paul Corralchairman of the Argentine Association of Lipids, revealed the country’s first data within the Ibero-American network of familial hypercholesterolemia. In 2015, they launched the first HF detection program in Argentina. In the form inherited from either parent (heterozygous), the local prevalence is 1 in 290 cases and coincides with data from other countries. Meanwhile, the form of HF that is inherited from both parents (homozygous) is less frequent, more severe and already in childhood with cardiovascular problems if it is not detected and treated.

At the same time, corona patients who have had a heart attack, for example, are 20 times more likely to have HF than the general population. “That’s why its detection is important,” emphasizes Schreier.

He insists that the warning with a blood LDL cholesterol level of 190 mg/dL is in a clinical analysis for both health professionals and the community at large. “It is a warning to study and treat the underlying disease causing the cholesterol elevation, or to perform the biochemical-clinical detection with the to score or risk score, coronary artery imaging, and genetic testing. This is the ideal complete study for a good classification of the patient’s risk and indication of the right treatment,” says the specialist.

The accepted “minimal” study, when it is not possible to perform the genetic test, includes the risk score with well-reported family and personal history, the determination of LDL cholesterol levels and the detection of thickening in the skin over the tendons ( tendinous xanthomas) or a white ring in the iris (corneal ring) in young people as it is normal for it to appear with age, but in those under 40 years of age this indicates that cholesterol is being deposited.

According to the professional, the genetic study is not essential to start the treatment. “In light of high LDL, possibly along with xanthomas and/or family history, cholesterol reduction and family evaluation should be initiated. This makes it possible to trace the known cascade that amplifies the detection, he continues. In 30-40% of people with FH, the genetic test is negative and may be due to polygenic causes, not monogenic causes like FH, which raise cholesterol in a similar way and should also be treated.

The program they conducted with Corral allowed them to complete several family cascade studies, including one that spanned five generations of an index case: a 50-year-old woman with a family history of heart disease, enabling early detection of a daughter and two six-month-old and four-year-olds. old grandchildren with hereditary FH.

in boys, cholesterol can start to be controlled between the ages of six and eight. “But if he is the son of a family in which some members have FH, between the ages of two and four, he should study it. The research anticipates more and more because, often, the adults of the family are reached through the children. With treatments and recommendations to maintain the right lifestyle, The life expectancy of people with HF has been practically equal to that of the general population for years.Schreier concludes.

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