Publication details

Familial hypercholesterolaemia: A global call to arms

Authors	VALLEJO-VAZ Antonio J. SESHASAI Sreenivasa Rao K. COLE Della HOVINGH G Kees KASTELEIN John J. P. MATA Pedro RAAL Frederick J. SANTOS Raul D. SORAN Handrean WATTS Gerald F. ABIFADEL Marianne AGUILAR-SALINAS Carlos A. AKRAM Asif ALNOURI Fahad ALONSO Rodrigo AL-RASADI Khalid BANACH Maciej BOGSRUD Martin P. BOURBON Mafalda BRUCKERT Eric CAR Josip CORRAL Pablo DESCAMPS Olivier DIEPLINGER Hans DURST Ronen FREIBERGER Tomáš GASPAR Isabela M. GENEST Jaques HARADA-SHIBA Mariko JIANG Lixin KAYIKCIOGLU Meral LAM Carolyn S. P. LATKOVSKIS Gustavs LAUFS Ulrich LIBEROPOULOS Evangelos NILSSON Lennart NORDESTGAARD Borge G. O´DONOGHUE John M. SAHEBKAR Amirhossein SCHUNKERT Heribert SHEHAB Abdulla STOLL Mario SU Ta-Chen SUSEKOV Andrey WIDÉN Elisabeth CATAPANO Alberico L. RAY Kausik K.
Year of publication	2015
Type	Article in Periodical
Magazine / Source	Atherosclerosis
MU Faculty or unit	Central European Institute of Technology
Citation
Web	http://ac.els-cdn.com/S0021915015301301/1-s2.0-S0021915015301301-main.pdf?_tid=027dcd06-9e40-11e5-83c4-00000aacb361&acdnat=1449643526_89ab5894d31f4df6fd618f2c0be660c6
Doi	http://dx.doi.org/10.1016/j.atherosclerosis.2015.09.021
Field	Cardiovascular diseases incl. cardiosurgery
Keywords	Familial hypercholesterolaemia; disease; Prevalence
Description	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.