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Hereditary metabolic disease: How a simple bloodtest at the pediatrician could prevent future heart attacks

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On the occasion of the Children with Heart Disease Day on May 5th, the National Heart Alliance (NHA) is raising awareness of a common hereditary condition called familial hypercholesterolaemia. It can also lead to heart attacks at a younger age and could be easily detected and treated by an examination by a paediatrician. The National Heart Alliance is now campaigning for this check-up to be included in basic medical care.

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When we think of heart disease in children, the first thing that comes to mind is structural heart disease: Underdeveloped heart chambers or defective heart valves. But hardly anyone knows about familial hypercholesterolaemia (FH). It is a genetic disorder of the cholesterol metabolism that causes blood vessels to become fatty and narrow at a young age. This significantly increases the risk of a heart attack or stroke at an early age. About one in 300 children in Germany is born with FH. This makes it one of the most common hereditary diseases. Nevertheless, it is estimated that less than five percent of cases are currently diagnosed, let alone treated early.


A simple blood test suffices for diagnosis

"It would be easy and inexpensive to diagnose this disease in children. By measuring the LDL cholesterol level in the blood, we can get a first indication of whether the disease is present. In case of suspicion, a subsequent genetic test can provide certainty," says Prof. Dr. Matthias Gorenflo, paediatric cardiologist and President of the German Society for Paediatric Cardiology and Congenital Heart Defects (DGPK).

Familial hypercholesterolaemia is not curable. However, the earlier it is diagnosed, the quicker it can be treated with cholesterol-lowering drugs and the more likely it is to prevent harmful vascular changes. The National Heart Alliance, a new, nationwide action alliance of major cardiac societies and patient representatives, is therefore calling for LDL cholesterol measurement to be included in basic medical care for children. The DZHK is part of the National Heart Alliance.


Heart specialists want bloodtest to become standard examination

Prof. Dr. Stephan Baldus, former president of the German Society of Cardiology (DGK) and initiator of the National Heart Alliance: "This is just one of two early detection projects we are currently promoting. Cholesterol measurement could be carried out as part of the routine examinations of small children, which are already carried out by paediatricians. Prof. Dr. Holger Thiele, acting president of the DGK, adds: "The additional effort and the costs would be low, but the effect for those affected and for society would be enormous. We therefore advocate that all health insurance companies include this examination as a standard part of their service portfolio.

To this end, the NHA's experts are in close exchange with the Joint Federal Committee (G-BA), the health insurances and political decision-makers. In addition, a pilot project is currently underway in Lower Saxony to provide further statistical and reliable evidence of the benefits of cholesterol measurement in children over the age of five. The German Heart Foundation is also involved in the study. Prof. Dr. Thomas Voigtländer, Chairman of the Heart Foundation: "We are supporting this project because with the help of such screening we can effectively identify people at risk before they suffer a complete blockage of a blood vessel in the form of a heart attack or stroke. With early diagnosis and consistent treatment, this risk can be reduced to normal levels.


What can you do if you have familial hypercholesterolaemia?

As with most heart diseases, exercise and a healthy diet are the best preventive measures you can take. Nevertheless, this is not enough for this disease. To achieve a sufficient reduction in cholesterol levels, early and sustained treatment is necessary. This, however, also requires early diagnosis in infancy.

Further information on this and other diseases, as well as tips for prevention can be found on the follwing platforms:

Herzstiftung.de and Herzmedizin.de

About the National Heart Alliance:
The National Heart Alliance is a broad alliance in which all of Germanys major cardiology societies and patient representatives work together to improve research and care in the field of cardiovascular disease. It has been under the patronage of the Federal Ministry of Health since 2022.

Source: press release of the DGK