Despite numerous cases, familial Hypercholesterolaemia is still insufficiently recognised and treated
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Date of publication:
Familial hypercholesterolaemia, an inherited disorder accompanied by increased levels of LDL or ‘bad’ cholesterol and a greater susceptibility to the early onset of cardiovascular diseases, is still insufficiently recognised and treated, despite the high number of cases. This has been shown in the cross-sectional study ‘Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study’, which involved the participation of researchers from the University of Ljubljana Faculty of Medicine.
The study looked at the diagnostics and treatment of familial hypercholesterolaemia (FH) in children and adolescents in 48 countries, and included over 11,000 children (of which a little under 5 % of the total were from Slovenia). Familial hypercholesterolaemia affects 1 in 300 people, and is the most common congenital life-threatening metabolic disorder, and is probably also the most common of all congenital life-threatening disorders. The study showed that FH in children and adolescents is characterised by significantly insufficient and late diagnosis and treatment; only a small proportion of the total receive medications to reduce cholesterol. The study has also shown that there are major differences between countries, especially between those with high and those with low incomes. The authors promote the need to improve screening and treatment of FH in children and adolescents, with one of the cited exemplary cases being the Slovenian model of population-wide screening for familial hypercholesterolaemia in children. The study offers an important insight into the global burden of FH in children and adolescents, and stresses the need for better diagnostics and treatment of this condition.
The study also dovetails with the fulfilment of sustainable development goals, since it sets the foundations for detecting familial hypercholesterolaemia in the paediatric period, thereby enabling the effective prevention of complications of this disorder in children and most commonly also in their parents (given the nature of its inheritance, one of the parents also as a rule has the same disorder, but with regard to previous research the majority of them are not aware of it), which is also in the interest of the child. In this way it is possible to effectively maintain the health of persons with familial hypercholesterolaemia, and to reduce the inequality in health for persons with familial hypercholesterolaemia.
The study was published in the highly prestigious journal The Lancet. The core group of authors for the study, brought together in the EAS Familial Hypercholesterolemia Studies Collaboration, included Assoc. Prof. Dr Urh Grošelj from the Paediatric Department of the UL Faculty of Medicine and the Paediatric Clinic of the Ljubljana University Medical Centre. Alongside him the expanded group of co-authors comprised Prof. Dr Tadej Battelino, Dr Barbara Jenko Bizjan, Asst. Prof. Dr Maruša Debeljak, Asst. Prof. Dr Jernej Kovač, Matej Mlinarič, MD, Neža Molk, MSc (biotech), Jaka Šikonja, MD, Dr Urša Šuštar and Prof. Dr Katarina Trebušak Podkrajšek.
The article is freely available at the following link: https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(23)01842-1/fulltext.
Source:
European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study. Lancet. 2024 Jan 6; 403(10421):55-66. doi: 10.1016/S0140-6736(23)01842-1. Epub 2023 Dec 12. PMID: 38101429.
