Familial Hypercholesterolemia in Children: Causes, Diagnosis, and Treatment

2023-08-13 11:24:00

About one in 300 children in Germany is born with familial hypercholesterolemia (FH), according to a press release from the German Society for Cardiology – Heart and Circulation Research. V. (DGK). This is a genetic disorder of cholesterol metabolism that causes the blood vessels of those affected to become fatty and narrow at an early age. This increases the risk of a heart attack or stroke even in children.

Most often, the disease is present in the heterozygous form. This means that the child has inherited the disposition from a parent. The homozygous form, in which both parents have passed on the predisposition to the child, is much rarer, but also more dangerous. “The probability of this is 1 in 1 million,” says Prof. Dr. Oliver Weingärtner from the Jena University Hospital. “If left untreated, these people die on average at the age of 30,” says the expert.

Disease usually goes undetected

Currently, it is estimated that less than 5% of cases are diagnosed with FH. The DGK therefore calls for the measurement of the LDL cholesterol level in the blood to be included in primary medical care for children. Prof. Weingärtner sees this as the only chance to diagnose and treat FH at an early stage. He advocates carrying out the screening as part of the school enrollment examination at around five years of age. The costs would be low, but the benefits would be enormous. Because a high LDL cholesterol level is not noticeable and is often only noticed in young people when a heart attack or stroke has already occurred.

The main reason for the high cholesterol levels is the body’s own synthesis of cholesterol, less the cholesterol ingested through food. Therefore, the LDL cholesterol level in those affected must be reduced with medication. If that is not enough, lipoprotein apheresis – a type of blood washing in which cholesterol is filtered out of the blood – may also be considered. In any case, the therapy must be lifelong, because FH cannot be cured.

Have every child tested

A blood test to determine the LDL cholesterol level is not currently part of the standard examinations for children and may therefore not be paid for by statutory health insurance companies. Nevertheless, Prof. Weingärtner advises parents to have the LDL level in their child’s blood measured, if necessary at their own expense.

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