Familial Hypercholesterolemia in children. From detection and characterization to lifestyle changes

Identificador:  TDX:3251

Handle: https://hdl.handle.net/20.500.11797/TDX3251

Autors:  Rodríguez Borjabad, Cèlia

Resum:
Familial hypercholesterolemia (FH) is an autosomal dominant disease with high levels of low-density lipoprotein (LDL) from birth. This disease is usually underdiagnosed and undertreated. Childhood is an optimal time for detection and initiation of treatment (lifestyle changes (LSC), and in some cases, statins). If these children are found and treated early, they have been shown to improve their prognosis. For this reason, the present doctoral thesis aims to improve the detection, diagnosis and treatment of children with FH. This general objective is achieved through three actions: 1. Establish an early detection strategy to detect children with FH; 2. Explore new biomarkers and analyse in greater depth the lipoprotein profile assessed by nuclear magnetic resonance (NMR); and 3. Implement early treatment based on educational activities aimed at establishing LSC. With respect to Objective 1, thanks to active screening strategies based on direct and indirect cascade, with the help of pediatricians from primary care centers, 87 children and 41 relatives with FH have been detected in two years. Regarding target 2, we observed that children with FH present more IDOL and PCSK9, as well as a greater number of small LDL particles (the most atherogenic). And finally, to answer objective 3, we study how diet affects the entire lipid and lipoprotein profile. We have observed that although elevated LDL levels in children with FH are genetically determined, LSC are capable of reducing their values.