Publications
7 results found
Lyons ARM, Stevens CAT, Dharmayat KI, et al., 2023, Overview of a collaborative global effort to address the burden of familial hypercholesterolaemia, Indian Heart Journal, ISSN: 0019-4832
This is an overview of the EAS Familial Hypercholesterolaemia (FH) Studies Collaboration (FHSC) global consortium and registry (established 2015), which broadly addresses the global burden of FH. Eighty-seven National Lead Investigators from 74 countries form this expanding global consortium, and this global registry currently includes pooled data on 70,000 participants from participating countries to facilitate FH surveillance. Published first results from this global registry concluded that FH is diagnosed late, and management of LDL-cholesterol falls below guideline recommendations, and therefore earlier detection of FH and wider use of combination therapy is required. Further FHSC studies will follow on updated data including new countries, participants and variables, and non-DNA genetic information, and on the remaining cohorts in the registry. FHSC cross-sectional collaborative global studies are expected to promote FH detection earlier in life to subsequently initiate early lipid lowering therapy to reduce lifelong exposure to cumulative LDL-cholesterol thus reducing cardiovascular disease risk.
Stevens C, Lyons A, Dharmayat K, et al., 2023, Ensemble machine learning methods in screening electronic health records: a scoping review, Digital Health, Vol: 9, Pages: 1-17, ISSN: 2055-2076
Background:Electronic Health Records (EHRs) provide the opportunity to identify undiagnosed individuals likely to have a given disease using Machine Learning (ML) techniques, and who could then benefit from more medical screening and case finding, reducing the number needed to screen with convenience and healthcare cost savings. Ensemble Machine Learning Models (EMLs) combining multiple prediction estimates into one, are often said to provide better predictive performances than non-ensemble models. Yet, to our knowledge, no literature review summarises the use and performances of different types of EMLs in the context of medical pre-screening. Method:We aimed to conduct a scoping review of the literature reporting the derivation of EMLs for screening of EHRs. We searched EMBASE and MEDLINE databases across all years applying a formal search strategy using terms related to medical screening, EHR and ML. Data were collected, analysed, and reported in accordance with the PRISMA scoping review guideline. Results:A total of 3,355 articles were retrieved, of which 145 articles met our inclusion criteria and were included in this study. EMLs were increasingly employed across several medical specialities and often outperformed non-ensemble approaches. EMLs with complex combination strategies and heterogeneous classifiers often outperformed other types of EMLs but were also less used. EML methodologies, processing steps and data sources were often not clearly described. Conclusions:Our work highlights the importance of deriving and comparing the performances of different types of EMLs when screening EHRs and underscores the need for more comprehensive reporting of ML methodologies employed in clinical research.
Vallejo-Vaz A, Stevens C, Dharmayat K, et al., 2022, Identification, characteristics and management of adults with heterozygous Familial Hypercholesterolaemia in high and non-high income countries participating in the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC), European Atherosclerosis Society Congress 2022, Publisher: Elsevier, Pages: 15-16, ISSN: 0021-9150
Dharmayat KI, Vallejo-Vaz AJ, Stevens CA, et al., 2022, Global perspective of paediatric Familial Hypercholesterolaemia: Analysis from the EAS FHSC registry on over 11,200 children and adolescents with heterozygous Familial Hypercholesterolaemia from 44 countries, 90th European Atherosclerosis Society (EAS) Congress, Publisher: Elsevier, Pages: E13-E13, ISSN: 0021-9150
Vallejo-Vaz AJ, Stevens CAT, Lyons ARM, et al., 2021, Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC), The Lancet, Vol: 398, Pages: 1713-1725, ISSN: 0140-6736
BackgroundThe European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of multinational data. In this study, we aimed to characterise the adult population with heterozygous familial hypercholesterolaemia and described how it is detected and managed globally.MethodsUsing FHSC global registry data, we did a cross-sectional assessment of adults (aged 18 years or older) with a clinical or genetic diagnosis of probable or definite heterozygous familial hypercholesterolaemia at the time they were entered into the registries. Data were assessed overall and by WHO regions, sex, and index versus non-index cases.FindingsOf the 61 612 individuals in the registry, 42 167 adults (21 999 [53·6%] women) from 56 countries were included in the study. Of these, 31 798 (75·4%) were diagnosed with the Dutch Lipid Clinic Network criteria, and 35 490 (84·2%) were from the WHO region of Europe. Median age of participants at entry in the registry was 46·2 years (IQR 34·3–58·0); median age at diagnosis of familial hypercholesterolaemia was 44·4 years (32·5–56·5), with 40·2% of participants younger than 40 years when diagnosed. Prevalence of cardiovascular risk factors increased progressively with age and varied by WHO region. Prevalence of coronary disease was 17·4% (2·1% for stroke and 5·2% for peripheral artery disease), increasing with concentrations of untreated LDL cholesterol, and was about two times lower in women than in men. Among patients receiving lipid-lowering medications, 16 803 (81·1%) were receiving statins and 3691 (21·2%) were on combination therapy, with greater use of more potent lipid-lowering medication in men than in women. Median LDL cholesterol
Vallejo-Vaz AJ, Dharmayat K, Stevens C, et al., 2020, Characteristics of adults with heterozygous familial hypercholesterolaemia stratified by gender: preliminary analysis from the eas fhsc global registry on over 36,000 cases of familial hypercholesterolaemia, European Atherosclerosis Society Congress, Publisher: Elsevier, Pages: e13-e13, ISSN: 0021-9150
Dharmayat K, Stevens C, Lyons A, et al., 2020, Heterozygous familial hypercholesterolaemia in children: preliminary analysis from the eas fhsc global registry on over 7,900 children with familial hypercholesterolaemia, European Atherosclerosis Society Congress, Publisher: Elsevier, Pages: e76-e76, ISSN: 0021-9150
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