Homozygous Familial Hypercholesterolemia in Childhood - The first case report in Southeast Europe

Abstract Homozygous familial hypercholesterolemia (HoFH) is the rare, severe, but treatable disease characterized by exceedingly high levels of low-density lipoprotein cholesterol (LDL-C) and subsequent premature coronary heart disease. Of note, HoFH detection rate and patient access to healthcare and treatment modalities still differ considerably across EU countries. To our current knowledge, there are still no published reports describing HoFH in the paediatric population of Southeastern Europe. In this case report, a few important topics on obstacles in getting adequate health care service and management of HoFH children from Southeastern Europe are tackled.