6533b82dfe1ef96bd12914ac
RESEARCH PRODUCT
Familial hypercholesterolaemia: A global call to arms
Carolyn S.p. LamEvangelos LiberopoulosPedro MataTa-chen SuJohn O'donoghueElisabeth WidenAmirhossein SahebkarGustavs LatkovskisKhalid Al-rasadiOlivier S. DescampsJohn J.p. KasteleinGerald F. WattsTomáš FreibergerI.m. GasparHans DieplingerMariko Harada-shibaHandrean SoranRodrigo AlonsoAlberico L. CatapanoDella ColeMeral KayıkçıoğluMarianne AbifadelMaciej BanachJ. GenestHeribert SchunkertPablo CorralRonen DurstSreenivasa Rao Kondapally SeshasaiMartin P. BogsrudAntonio J. Vallejo-vazLixin JiangFrederick J. RaalJosip CarBørge G. NordestgaardKausik K. RayLennart NilssonAndrey V. SusekovUlrich LaufsRaul D. SantosAsif AkramMario StollMafalda BourbonEric BruckertG. Kees HovinghCarlos A. Aguilar-salinasAbdulla ShehabFahad Alnourisubject
PathologyApolipoprotein BDisease030204 cardiovascular system & hematologymedicine.disease_causeGlobal HealthDISEASEDoenças Cardio e Cérebro-vasculares0302 clinical medicineHyperlipoproteinemia Type IISocieties MedicalRISK0303 health sciencesMutationbiology3. Good healthPREVALENCEEuropelipids (amino acids peptides and proteins)Cardiology and Cardiovascular MedicineFamilial hypercholesterolaemiaLife Sciences & Biomedicinemedicine.medical_specialtyHeterozygote1102 Cardiovascular Medicine And HaematologyHyperlipoproteinemia Type II03 medical and health sciencesInternal medicinemedicineHumans030304 developmental biologyScience & Technologybusiness.industryGUIDANCEPCSK9Heterozygote advantage1103 Clinical SciencesEndocrinologyPeripheral Vascular DiseaseCardiovascular System & HematologyReceptors LDLRECEPTORES DE LIPOPROTEÍNASRelative riskMutationbiology.proteinCardiovascular System & CardiologyFamilial HypercholesterolaemiabusinessCLINICIANLipoproteindescription
Familial Hypercholesterolaemia (FH) is the commonest autosomal co-dominantly inherited condition affecting man. It is caused by mutation in one of three genes, encoding the low-density lipoprotein (LDL) receptor, or the gene for apolipoprotein B (which is the major protein component of the LDL particle), or in the gene coding for PCSK9 (which is involved in the degradation of the LDL-receptor during its cellular recycling). These mutations result in impaired LDL metabolism, leading to life-long elevations in LDL-cholesterol (LDL-C) and development of premature atherosclerotic cardiovascular disease (ASCVD) [1], [2] and [3]. If left untreated, the relative risk of premature coronary artery disease is significantly higher in heterozygous patients than unaffected individuals, with most untreated homozygotes developing ASCVD before the age of 20 and generally not surviving past 30 years [2], [3], [4] and [5]. Although early detection and treatment with statins and other LDL-C lowering therapies can improve survival, FH remains widely underdiagnosed and undertreated [1], thereby representing a major global public health challenge.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2015-09-14 |