2023-09-05 11:45:25
Title: Genetic Hypercholesterolemia: Study reveals alarming number of undiagnosed cases
Date: 09/04/2023
If slim people have persistently high cholesterol levels despite a lot of exercise and a healthy diet, they may have hereditary hypercholesterolemia, a genetic metabolic disease. Recently, a Danish study highlighted that this condition affects approximately one in 300 people worldwide. However, only about 15 percent of those affected are aware of their condition and the associated risk. In Europe alone, it is estimated that over two million people remain undiagnosed.
The disease, known as familial or primary hypercholesterolemia, often goes unnoticed until later stages due to the lack of routine examinations for the condition. However, an international study has brought attention to this condition by examining over 166,000 children. The study identified 305 children with familial hypercholesterolemia, allowing for targeted treatment with medication to reduce their increased risk of arteriosclerosis and heart attacks.
It is crucial to detect familial hypercholesterolemia early, as those affected already have high cholesterol levels from an early age. Over time, this can lead to cardiovascular problems, including heart attacks or strokes before the age of 30 or 40. As a result of the children’s study, close relatives of the affected children were also tested, and some of them were found to have hereditary high cholesterol levels. Timely therapy can benefit these individuals as well.
Familial hypercholesterolemia occurs due to a genetic defect that prevents cells from absorbing “bad” LDL cholesterol or only allowing absorption to a small extent. As a result, it remains in the blood and can lead to arteriosclerosis at an early stage. This increases the risk of heart attacks or strokes, particularly when combined with other risk factors such as smoking, high blood pressure, and obesity. If left undetected, the risk of cardiovascular disease can increase by up to 26 times.
Differentiating between “good” HDL cholesterol and “bad” LDL cholesterol is crucial to understanding familial hypercholesterolemia. The “bad” LDL cholesterol transports cholesterol from the liver to organs, while the “good” HDL cholesterol transports it back to the liver from the organs and vessel walls.
Symptoms of hypercholesterolemia include LDL cholesterol levels in the blood that are five to ten times higher than normal. Abnormal blood values are often present in childhood, despite a healthy diet. However, research into the genetic causes of these findings is often overlooked. Key indicators of familial hypercholesterolemia include a LDL level above 190 milligrams per deciliter and multiple family members experiencing heart attacks at an early age.
To manage and lower cholesterol levels, early treatment with cholesterol-lowering drugs (statins) is recommended. This, combined with dietary adjustments, exercise, and the avoidance of smoking, can normalize the risk of cardiovascular disease. In cases where medication has uncontrollable side effects, doctors may opt for lipid apheresis, a procedure that filters excess cholesterol from the blood. However, this complex procedure is only covered by health insurance companies in certain cases.
In addition to familial hypercholesterolemia, lipoprotein (a) has also come into focus as a blood fat with a significant impact on arteriosclerosis development. The condition is also hereditary, and while drugs can reduce its presence to some extent, the most successful treatment option remains lipid apheresis.
Experts strongly advise regular LDL cholesterol level checks, particularly at a young age, as early detection is crucial for effective treatment. Achieving a cholesterol value below 100 milligrams per deciliter is the goal, or even lower for those with damaged blood vessels. Adopting a diet rich in fiber and healthy fats, while avoiding nicotine, is also essential.
This study sheds light on the alarming number of undiagnosed cases of genetic hypercholesterolemia and emphasizes the importance of awareness, early detection, and prompt treatment of this condition. By taking proactive measures, individuals can significantly mitigate their risk of cardiovascular diseases associated with high cholesterol levels.]
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