TY - JOUR
T1 - Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society
AU - Nordestgaard, Børge G.
AU - Chapman, M. John
AU - Humphries, Steve E.
AU - Ginsberg, Henry N.
AU - Masana, Luis
AU - Descamps, Olivier S.
AU - Wiklund, Olov
AU - Hegele, Robert A.
AU - Raal, Frederick J.
AU - Defesche, Joep C.
AU - Wiegman, Albert
AU - Santos, Raul D.
AU - Watts, Gerald F.
AU - Parhofer, Klaus G.
AU - Hovingh, G. Kees
AU - Kovanen, Petri T.
AU - Boileau, Catherine
AU - Averna, Maurizio
AU - Borén, Jan
AU - Bruckert, Eric
AU - Catapano, Alberico L.
AU - Kuivenhoven, Jan Albert
AU - Pajukanta, Päivi
AU - Ray, Kausik
AU - Stalenhoef, Anton F. H.
AU - Stroes, Erik
AU - Taskinen, Marja-Riitta
AU - Tybjærg-Hansen, Anne
PY - 2013
Y1 - 2013
N2 - The first aim was to critically evaluate the extent to which familial hypercholesterolaemia (FH) is underdiagnosed and undertreated. The second aim was to provide guidance for screening and treatment of FH, in order to prevent coronary heart disease (CHD). Of the theoretical estimated prevalence of 1/500 for heterozygous FH, <1% are diagnosed in most countries. Recently, direct screening in a Northern European general population diagnosed approximately 1/200 with heterozygous FH. All reported studies document failure to achieve recommended LDL cholesterol targets in a large proportion of individuals with FH, and up to 13-fold increased risk of CHD. Based on prevalences between 1/500 and 1/200, between 14 and 34 million individuals worldwide have FH. We recommend that children, adults, and families should be screened for FH if a person or family member presents with FH, a plasma cholesterol level in an adult ≥8 mmol/L(≥310 mg/dL) or a child ≥6 mmol/L(≥230 mg/dL), premature CHD, tendon xanthomas, or sudden premature cardiac death. In FH, low-density lipoprotein cholesterol targets are <3.5 mmol/L( <135 mg/dL) for children, <2.5 mmol/L( <100 mg/dL) for adults, and <1.8 mmol/L( <70 mg/dL) for adults with known CHD or diabetes. In addition to lifestyle and dietary counselling, treatment priorities are (i) in children, statins, ezetimibe, and bile acid binding resins, and (ii) in adults, maximal potent statin dose, ezetimibe, and bile acid binding resins. Lipoprotein apheresis can be offered in homozygotes and in treatment-resistant heterozygotes with CHD. Owing to severe underdiagnosis and undertreatment of FH, there is an urgent worldwide need for diagnostic screening together with early and aggressive treatment of this extremely high-risk condition
AB - The first aim was to critically evaluate the extent to which familial hypercholesterolaemia (FH) is underdiagnosed and undertreated. The second aim was to provide guidance for screening and treatment of FH, in order to prevent coronary heart disease (CHD). Of the theoretical estimated prevalence of 1/500 for heterozygous FH, <1% are diagnosed in most countries. Recently, direct screening in a Northern European general population diagnosed approximately 1/200 with heterozygous FH. All reported studies document failure to achieve recommended LDL cholesterol targets in a large proportion of individuals with FH, and up to 13-fold increased risk of CHD. Based on prevalences between 1/500 and 1/200, between 14 and 34 million individuals worldwide have FH. We recommend that children, adults, and families should be screened for FH if a person or family member presents with FH, a plasma cholesterol level in an adult ≥8 mmol/L(≥310 mg/dL) or a child ≥6 mmol/L(≥230 mg/dL), premature CHD, tendon xanthomas, or sudden premature cardiac death. In FH, low-density lipoprotein cholesterol targets are <3.5 mmol/L( <135 mg/dL) for children, <2.5 mmol/L( <100 mg/dL) for adults, and <1.8 mmol/L( <70 mg/dL) for adults with known CHD or diabetes. In addition to lifestyle and dietary counselling, treatment priorities are (i) in children, statins, ezetimibe, and bile acid binding resins, and (ii) in adults, maximal potent statin dose, ezetimibe, and bile acid binding resins. Lipoprotein apheresis can be offered in homozygotes and in treatment-resistant heterozygotes with CHD. Owing to severe underdiagnosis and undertreatment of FH, there is an urgent worldwide need for diagnostic screening together with early and aggressive treatment of this extremely high-risk condition
U2 - https://doi.org/10.1093/eurheartj/eht273
DO - https://doi.org/10.1093/eurheartj/eht273
M3 - Article
C2 - 23956253
SN - 0195-668X
VL - 34
SP - 3478-390a
JO - European Heart journal
JF - European Heart journal
IS - 45
ER -