AIMS: 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). METHODS AND RESULTS: 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. CONCLUSION: 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.

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 / B.G. Nordestgaard, M.J. Chapman, S.E. Humphries, H.N. Ginsberg, L. Masana, O.S. Descamps, O. Wiklund, R.A. Hegele, F.J. Raal, J.C. Defesche, A. Wiegman, R.D. Santos, G.F. Watts, K.G. Parhofer, G.K. Hovingh, P.T. Kovanen, C. Boileau, M. Averna, J. Borén, E. Bruckert, A.L. Catapano, J.A. Kuivenhoven, P. Pajukanta, K. Ray, A.F.H. Stalenhoef, E. Stroes, M. Taskinen, A. Tybjærg-Hansen. - In: EUROPEAN HEART JOURNAL. - ISSN 0195-668X. - 34:45(2013 Dec), pp. 3478-3490.

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

A.L. Catapano;
2013

Abstract

AIMS: 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). METHODS AND RESULTS: 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. CONCLUSION: 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.
Atherosclerosis ; Cardiovascular disease ; Cholesterol ; Coronary heart disease ; Low-density lipoprotein
Settore BIO/14 - Farmacologia
dic-2013
Article (author)
File in questo prodotto:
File Dimensione Formato  
Eur Heart J. 2013 Dec_34(45)_3478-90a. doi 10.1093.pdf

accesso riservato

Tipologia: Publisher's version/PDF
Dimensione 1.37 MB
Formato Adobe PDF
1.37 MB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/234857
Citazioni
  • ???jsp.display-item.citation.pmc??? 507
  • Scopus 2179
  • ???jsp.display-item.citation.isi??? 1960
social impact