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 Collaboration

Background: The potential for global collaborations to better inform public health policy regarding major non-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. (C) 2016 Elsevier Ireland Ltd.Peer reviewe

A continental-scale hydrology and water quality model for Europe: Calibration and uncertainty of a high-resolution large-scale SWAT model

A combination of driving forces are increasing pressure on local, national, and regional water supplies needed for irrigation, energy production, industrial uses, domestic purposes, and the environment. In many parts of Europe groundwater quantity, and in particular quality, have come under sever degradation and water levels have decreased resulting in negative environmental impacts. Rapid improvements in the economy of the eastern European block of countries and uncertainties with regard to freshwater availability create challenges for water managers. At the same time, climate change adds a new level of uncertainty with regard to freshwater supplies. In this research we build and calibrate an integrated hydrological model of Europe using the Soil and Water Assessment Tool (SWAT) program. Different components of water resources are simulated and crop yield and water quality are considered at the Hydrological Response Unit (HRU) level. The water resources are quantified at subbasin level with monthly time intervals. Leaching of nitrate into groundwater is also simulated at a finer spatial level (HRU). The use of large-scale, high-resolution water resources models enables consistent and comprehensive examination of integrated system behavior through physically-based, data-driven simulation. In this article we discuss issues with data availability, calibration of large-scale distributed models, and outline procedures for model calibration and uncertainty analysis. The calibrated model and results provide information support to the European Water Framework Directive and lay the basis for further assessment of the impact of climate change on water availability and quality. The approach and methods developed are general and can be applied to any large region around the world.ISSN:0022-1694ISSN:1879-270

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

Background and aims Management of familial hypercholesterolaemia (FH) may vary across different settings due to factors related to population characteristics, practice, resources and/or policies. We conducted a survey among the worldwide network of EAS FHSC Lead Investigators to provide an overview of FH status in different countries. Methods Lead Investigators from countries formally involved in the EAS FHSC by mid-May 2018 were invited to provide a brief report on FH status in their countries, including available information, programmes, initiatives, and management. Results 63 countries provided reports. Data on FH prevalence are lacking in most countries. Where available, data tend to align with recent estimates, suggesting a higher frequency than that traditionally considered. Low rates of FH detection are reported across all regions. National registries and education programmes to improve FH awareness/knowledge are a recognised priority, but funding is often lacking. In most countries, diagnosis primarily relies on the Dutch Lipid Clinics Network criteria. Although available in many countries, genetic testing is not widely implemented (frequent cost issues). There are only a few national official government programmes for FH. Under-treatment is an issue. FH therapy is not universally reimbursed. PCSK9-inhibitors are available in ∼2/3 countries. Lipoprotein-apheresis is offered in ∼60% countries, although access is limited. Conclusions FH is a recognised public health concern. Management varies widely across countries, with overall suboptimal identification and under-treatment. Efforts and initiatives to improve FH knowledge and management are underway, including development of national registries, but support, particularly from health authorities, and better funding are greatly needed