Browsing by Author "Raal, F.J."
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- Familial hypercholesterolaemia: a global call to armsPublication . Vallejo-Vaz, A.J.; Kondapally Seshasai, S.R.; Cole, D.; Hovingh, G.K.; Kastelein, J.J.; Mata, P.; Raal, F.J.; Santos, R.D.; Soran, H.; Watts, G.F.; Abifadel, M.; Aguilar-Salinas, C.A.; Akram, A.; Alnouri, F.; Alonso, R.; Al-Rasadi, K.; Banach, M.; Bogsrud, M.P.; Bourbon, M.; Bruckert, E.; Car, J.; Corral, P.; Descamps, O.; Dieplinger, H.; Durst, R.; Freiberger, T.; Gaspar, I.M.; Genest, J.; Harada-Shiba, M.; Jiang, L.; Kayikcioglu, M.; Lam, C.S.; Latkovskis, G.; Laufs, U.; Liberopoulos, E.; Nilsson, L.; Nordestgaard, B.G.; O'Donoghue, J.M.; Sahebkar, A.; Schunkert, H.; Shehab, A.; Stoll, M.; Su, TC; Susekov, A.; Widén, E.; Catapano, A.L.; Ray, K.K.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 LDLreceptor during its cellular recycling). These mutations result in impaired LDL metabolism, leading to life-long elevations in LDLcholesterol (LDL-C) and development of premature atherosclerotic cardiovascular disease (ASCVD) [1e3]. 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 [2e5]. Although early detection and treatment with statins and other LDL-C lowering therapies can improve survival, FH remains widely underdiagnosed and undertreated, thereby representing a major global public health challenge.
- Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies CollaborationPublication . EAS Familial Hypercholesterolaemia Studies Collaboration; Vallejo-Vaz, A.J.; Akram, A.; Kondapally Seshasai, S.R.; Cole, D.; Watts, G.F.; Hovingh, G.K.; Kastelein, J.J.; Mata, P.; Raal, F.J.; Santos, R.D.; Soran, H.; Freiberger, T.; Abifadel, M.; Aguilar-Salinas, C.A.; Alnouri, F.; Alonso, R.; Al-Rasadi, K.; Banach, M.; Bogsrud, M.P.; Bourbon, M.; Bruckert, E.; Car, J.; Ceska, R.; Corral, P.; Descamps, O.; Dieplinger, H.; Do, C.T.; Durst, R.; Ezhov, M.V.; Fras, Z.; Gaita, D.; Gaspar, I.M.; Genest, J.; Harada-Shiba, M.; Jiang, L.; Kayikcioglu, M.; Lam, C.S.; Latkovskis, G.; Laufs, U.; Liberopoulos, E.; Lin, J.; Lin, N.; Maher, V.; Majano, N.; Marais, A.D.; März, W.; Mirrakhimov, E.; Miserez, A.R.; Mitchenko, O.; Nawawi, H.; Nilsson, L.; Nordestgaard, B.G.; Paragh, G.; Petrulioniene, Z.; Pojskic, B.; Reiner, Ž.; Sahebkar, A.; Santos, L.E.; Schunkert, H.; Shehab, A.; Slimane, M.N.; Stoll, M.; Su, T.C.; Susekov, A.; Tilney, M.; Tomlinson, B.; Tselepis, A.D.; Vohnout, B.; Widén, E.; Yamashita, S.; Catapano, A.L.; Ray, K.K.BACKGROUND: The potential for global collaborations to better inform public health policy regarding major non-communicable diseases has been successfully demonstrated by several large-scale international consortia. However, the true public health impact of familial hypercholesterolaemia (FH), a common genetic disorder associated with premature cardiovascular disease, is yet to be reliably ascertained using similar approaches. The European Atherosclerosis Society FH Studies Collaboration (EAS FHSC) is a new initiative of international stakeholders which will help establish a global FH registry to generate large-scale, robust data on the burden of FH worldwide. METHODS: The EAS FHSC will maximise the potential exploitation of currently available and future FH data (retrospective and prospective) by bringing together regional/national/international data sources with access to individuals with a clinical and/or genetic diagnosis of heterozygous or homozygous FH. A novel bespoke electronic platform and FH Data Warehouse will be developed to allow secure data sharing, validation, cleaning, pooling, harmonisation and analysis irrespective of the source or format. Standard statistical procedures will allow us to investigate cross-sectional associations, patterns of real-world practice, trends over time, and analyse risk and outcomes (e.g. cardiovascular outcomes, all-cause death), accounting for potential confounders and subgroup effects. CONCLUSIONS: The EAS FHSC represents an excellent opportunity to integrate individual efforts across the world to tackle the global burden of FH. The information garnered from the registry will help reduce gaps in knowledge, inform best practices, assist in clinical trials design, support clinical guidelines and policies development, and ultimately improve the care of FH patients.