Children with genetically caused high cholesterol levels can suffer from heart attacks or other cardiovascular diseases at a young age. One in 250 people is affected by the so-called Familial hypercholesterolemia affected – but only one in ten knows it, warn Viennese nutritionists in a scientific article. Every child between the ages of six and ten should therefore pay attention to their Cholesterinwert (LDL-Cholesterin) should be examined, say the experts. This can be done with a simple blood laboratory test. A simple blood test can also provide clarity for potentially affected adults.
A Total cholesterol level of more than 240 milligrams per deciliter of blood (more than 150 milligrams of LDL) is considered a reason for suspicion in adults. In children, it is more than 200 milligrams of total cholesterol per deciliter of blood and more than 130 milligrams of LDL cholesterol. In addition, a family history should be taken to determine whether any direct relatives have had heart attacks or strokes at an early age. Finally, the genetic defect that triggers the disease can be determined using DNA sequencing.
For Kurt Widhalmlong-serving nutritional physician at the Medical University of Vienna, and his co-author Karin Fallmannboth from the Austrian Academy of Nutritional Medicine in Vienna, the problem is quite incomprehensible. “Familial hypercholesterolemia was described more than 130 years ago. So it is surprising that knowledge about this important metabolic disease is still so inadequate,” they wrote in “Current Pediatric Reviews” (the article can be read here https://pubmed.ncbi.nlm.nih.gov/39082163/).
No symptoms at first
Initially, the disease does not cause any clinical symptoms. However, the consequences of the fact that the majority of those affected do not know about the disease can be devastating. A classic case study according to the experts: A 33-year-old, apparently healthy man comes to the hospital with a severe Heart attack to the hospital and is saved by the most modern treatment with catheter intervention and stent. Only later does it emerge that some of his direct relatives had also suffered a heart attack between the ages of 40 and 55. His total cholesterol level is far too high at 400 milligrams per deciliter of blood (recommended at least less than 200 milligrams) and 300 milligrams of “bad” LDL cholesterol (at least less than 130 milligrams for otherwise healthy people). He knew nothing about this apparently inherited high risk of atherosclerosis.
This is problematic because without a diagnosis there can be no therapy that could prevent such acute and life-threatening cardiovascular events. “4.5 million people in Europe live with familial hypercholesterolemia. Worldwide, a child is born with this disease every minute,” say the experts. There is still far too little awareness of this disease and the risk of early heart attacks and vascular changes among doctors and those affected. This also applies to families in which heart attacks and strokes have occurred at an early age. And finally, there is an unjustified fear of possibly necessary drug therapy without there being any distressing symptoms of an illness.
Therapy easily possible
In fact, the therapy is usually relatively simple: It starts with a low-fat, fat-modified and high-fiber diet (lots of vegetables and fruit) Nutrition velvet enough MovementBut that is not enough for those affected by familial hypercholesterolemia. The standard medication is now so-called statins, which have been tried and tested billions of times. There are also other drugs that, when combined with these substances, reduce the LDL concentration in the blood even more. In the most serious cases, the extremely high blood fats are even regularly filtered out of the blood using plasmapheresis.
In most cases, the “predisposition” responsible for the congenital metabolic disease is inherited from only one parent (heterozygous). This means increased, but not extremely high, cholesterol concentrations in the blood. “With this form of the disease, the risk of heart attack is increased between the ages of 40 and 60. On the other hand, if the predisposition is inherited from both parents (homozygous), it is particularly serious. Those affected usually die in childhood from severe heart attacks. This form of the disease is very rare, at one in 500,000.” The result is extremely high cholesterol levels and an extremely early risk of atherosclerosis.
