Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

PoLA/CFPiP/PCS/PSLD/PSD/PSH guidelines on diagnosis and therapy of lipid disorders in Poland 2021

“…It is also worth mentioning that, according to calculations based on predictions from the studies discussed above, in Poland there may be as many as 140–150 thousand patients with familial hypercholesterolaemia (predicted prevalence of 1 : 250]) [ 32 , 33 ]. Unfortunately, only less than 5% of them are diagnosed despite existence of the registries, i.e., the Gdansk registry and the PTL registry, as well as a therapeutic programme for patients with FH in the context of treatment with PCSK9 inhibitors.…”

Clinical Features of Familial Hypercholesterolemia in Children and Adults in EAS-FHSC Regional Center for Rare Diseases in Poland

“…Familial hypercholesterolemia (FH) is a genetic autosomal co-dominant metabolic disorder caused by defective clearance of low-density lipoprotein cholesterol (LDL-C), leading to lifelong elevations in circulating concentrations [1]. FH occurs in between 1:250 and 1:300 people, meaning that in Europe there are as many as 3 million patients, and over 64 million worldwide [1][2][3][4].…”

“…Familial hypercholesterolemia (FH) is a genetic autosomal co-dominant metabolic disorder caused by defective clearance of low-density lipoprotein cholesterol (LDL-C), leading to lifelong elevations in circulating concentrations [1]. FH occurs in between 1:250 and 1:300 people, meaning that in Europe there are as many as 3 million patients, and over 64 million worldwide [1][2][3][4]. Several tools can be used for FH diagnosis, including: MedPed, Simon Broome, newly proposed The Familial Hypercholesterolemia Case Identification Tool (FAMCAT), and the most widely used Dutch Lipid Clinic Network (DLCN), which assess the clinical probability of a FH diagnosis [2].…”

“…Several tools can be used for FH diagnosis, including: MedPed, Simon Broome, newly proposed The Familial Hypercholesterolemia Case Identification Tool (FAMCAT), and the most widely used Dutch Lipid Clinic Network (DLCN), which assess the clinical probability of a FH diagnosis [2]. Molecular diagnostics testing is recommended (but phenotypic diagnosis is sufficient to start therapy) and allows for genetic testing for mutations in genes responsible for FH: the most common are in the LDL-C receptor (LDLR), apolipoprotein B (apoB), proprotein convertase subtilisin kexin type 9 (PCSK9), and more rarely the LDLR adaptor protein (LDLRAP1) and apolipoprotein E (APOE) [1,5,6]. In most individuals the mutation is present in one copy of gene with a heterozygous state.…”

Myocardial fibrosis assessed by magnetic resonance imaging in asymptomatic heterozygous familial hypercholesterolemia: the cholcoeur study

“…Heterozygous familial hypercholesterolemia (HeFH) is a common genetic disease associated with a high risk of coronary heart disease (CHD) due to lifelong exposure to high LDL-cholesterol (LDL-C) levels [1 , 2] . Big efforts are being made in order to improve clinical recognition, increase awareness, and develop alternative strategies for a more efficient therapeutic management of HeFH patients [3] . Although several studies have shown an increased prevalence of subclinical atherosclerotic cardiovascular disease (ASCVD) [4 , 5] in HeFH, there is still no consensus regarding the clinical value of cardiovascular imaging in asymptomatic HeFH patients.…”