Universal screening for familial hypercholesterolemia in children (Faculty of Medicine, University of Ljubljana)

Authors:Gašper Klančar, Urh Grošelj, Jernej Kovač, Nevenka Bratanič, Nataša Bratina, Katarina Trebušak Podkrajšek, Tadej Battelino

Prof. Dr. Tadej Battelino's research group at the University Children’s Hospital Ljubljana has published a notable research article in a leading scientific journal in the field of cardiology – Journal of American College of Cardiology, reporting successful implementation of the universal national screening program for familial hypercholesterolemia in a population of 5-years old children. The causative genetic change for familial hypercholesterolemia has been confirmed in 57 percent of children referred to the University Children’s Hospital with positive results from universal population screening. The system of early detection and treatment of familial hypercholesterolemia is crucial for reduction of more than 100-times higher risk of early cardio-vascular disease development in untreated patients with familial hypercholesterolemia as compared to a healthy population.

The researchers used the most advanced next generation genetic diagnostics to reduce the costs and turnover time of the genetic analyses. This achievement is especially important because Slovenia is currently the only country in the world (since 1995) with implemented a universal nation-wide hypercholesterolemia screening program in 5-years old children. The abovementioned program is not just compliant with recommendations of the most prominent international professional forums and societies, but it is also being upgraded with routine next generation genetic diagnostics for causative genetic variants. The published article attracted great interest from the professional public with an encouraging editorial by leading American lipidologist, Prof. Stephen R. Daniels and audio-commentary of the editor-in-chief and former president of the American Heart Association, Prof. Valentin Fuster in the Journal of the American College of Cardiology.

The published results have the potential to influence the formation and implementation of international guidelines for detection and treatment of familial hypercholesterolemia and prevention of cardio-vascular diseases.

Reference: Gašper Klančar, Urh Grošelj, Jernej Kovač, Nevenka Bratanič, Nataša Bratina, Katarina Trebušak Podkrajšek, Tadej Battelino. Universal Screening for Familial Hypercholesterolemia in Children. Journal of the American College of Cardiology, Volume 66, Issue 11, Pages 1250-1257.