Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review

Familial hypercholesterolemia (FH) is arguably the most common monogenic disorder in humans, but severely under-diagnosed. Individuals with untreated FH have an over 10-fold elevated risk of cardiovascular complications as compared to unaffected individuals; early diagnosis and timely management substantially reduce this risk.Slovenia has gradually implemented the program of universal FH screening in pre-school children, consisting of a two step approach: (1) universal hypercholesterolemia screening in pre-school children at the primary care level; (2) genetic FH screening in children referred to the tertiary care level according to clinical guidelines (with additional cascade screening of family members).

Source: Atherosclerosis - October 1, 2018 Category: Cardiology Authors: Urh Groselj, Jernej Kovac, Ursa Sustar, Matej Mlinaric, Zlatko Fras, Katarina Trebusak Podkrajsek, Tadej Battelino Source Type: research