Publish Date: 21.09.2015

Category: News from the University

The researchers from the Faculty of Medicine of the University of Ljubljana and Paediatric Clinic of the University Medical Centre Ljubljana in an article in the September issue of the renowned Journal of American College of Cardiology first proved the effectiveness of the programme of screening of children for elevated blood cholesterol in pinpointing patients with elevated blood cholesterol in the family (hypercholesterolemia).

The researchers discovered that in two thirds of the screened 5-year olds the elevated cholesterol is of genetic origin. It can be expected that the encouraging results of their research will have a critical influence on designing and implementation of international expert advice in the near future regarding the wisdom of introduction of hypercholesterolemia screening in children. According to the currently available data Slovenia is the only country in the world where the regular medical check-ups of 5-year olds include screening for hypercholesterolemia since 1995.

For genetic diagnostics the researchers used the newest technology of the next generation sequencing.

The abovementioned research is in the same issue of the Journal of American College of Cardiology accompanied by encouraging words by professor Valentin Fuster, the editor in chief of the magazine and former president of the most important cardiology forum in the world (e. g. American Heart Association), and professor Stephen R. Daniels, the leading American paediatric lipidologist. Their responses show great interest in the topic among the experts. They believe it is the first study so far which also showed in practice that screening of children for hypercholesterolemia at the age of five is a very effective strategy of pinpointing patients with family hypercholesterolemia, which is a very common and serious disease if it goes undetected. They stress that this is an extremely important article, with excellent and valuable sources of data from Slovene population.

By informing the public that there is the option of screening children for hypercholesterolemia experts could influence the decision to include all Slovene children in the screening for elevated blood cholesterol, the researchers claim. They also want to make the modern genetic diagnostic processes and appropriate treatments widely accessible to all the children and their families.