13 research outputs found
Mental health impact of COVID-19 in frontline healthcare workers in a Belgian Tertiary care hospital: a prospective longitudinal study
No full textObjectives: A prospective longitudinal single-centre study to assess the mental health impact of COVID-19 on nurses working in the frontline during the first wave of COVID-19 hospitalizations in Belgium, 2020. Patients and Methods: The study was performed between April 1(st) and 30 June 2020. Nurses who were actively and daily involved in the care of COVID-19 patients on selected intensive care units (ICU) and non-ICU wards were included. Depression, somatization, anxiety and distress scores were calculated using the Four-Dimensional Symptom Questionnaire (4DSQ). The Impact of Event Scale-Revised (IES-R) and Brief-COPE questionnaires were used to assess respectively the psychological impact and coping strategies. Participants were asked to fill in the questionnaire at the start of inclusion, 4 weeks later and 8 weeks later. Results: In total, 39/42 included nurses participated in the study. 4DSQ results showed low rates of depression, anxiety and somatization with a declining trend over time. Distress scores however were high throughout the study period. A past history of stress symptoms was significantly associated with higher distress scores at the inclusion and one month follow-up. As major psychological impact, more participants experienced 'intrusion' compared to 'avoidance' specifically among nurses working on ICU. In 10% of participants, IES-R-scores were predictive for post-traumatic stress disorder. Conclusion: Healthcare workers dealing with COVID-19 patients during the pandemic reported high and enduring distress scores and experienced a major impact on mental health, especially when employed at ICU. These results highlight the importance of psychological support and proper long-term follow-up to mitigate this impact.Messiaen, P (corresponding author), Jessa Hosp, Dept Infect Dis & Immun, Hasselt, Belgium.
[email protected]
Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing
No full textDespite the implementation of next-generation sequencing-based genetic testing on patients with clinical familial hypercholesterolemia (FH), most cases lack complete genetic characterization. We aim to investigate the utility of the polygenic risk score (PRS) in specifying the genetic background of patients from the Latvian Registry of FH (LRFH). We analyzed the whole-genome sequencing (WGS) data of the clinically diagnosed FH patients (n = 339) and controls selected from the Latvian reference population (n = 515). Variant pathogenicity in FH patients was classified according to the ACMG/AMP guidelines. The low-density lipoprotein cholesterol (LDL-C) and lipoprotein (a) (LPA) PRS were calculated based on the WGS data. We identified unique causative variants in 80 (23.6%) of the tested individuals (39 variants in FH genes and 4 variants in phenocopy genes, with 6 variants being novel). The LDL-C PRS was highly discriminative compared to the LPA PRS. Nevertheless, both PRS were able to explain the genetic cause of hypercholesterolemia in 26.3% of the remaining non-monogenic patients. The combined genetic analysis of monogenic and polygenic hypercholesterolemia resulted in 43.7% genetically explained hypercholesterolemia cases. Even though the application of PRS alone does not exclude monogenic testing in clinical FH patients, it is a valuable tool for diagnosis specification
Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
No full textThis article belongs to the Special Issue New Possibilities for the Treatment of DyslipidemiasBackground: There is limited data on the genetic characteristics of patients with familial
hypercholesterolemia (FH) in Latvia. We aim to describe monogenic variants in patients from the Latvian
Registry of FH (LRFH). Methods: Whole genome sequencing with 30 coverage was performed
in unrelated index cases from the LRFH and the Genome Database of Latvian Population. LDLR,
APOB, PCSK9, LDLRAP1, ABCG5, ABCG8, LIPA, LPA, CYP27A1, and APOE genes were analyzed.
Only variants annotated as pathogenic (P) or likely pathogenic (LP) using the FH Variant Curation
Expert Panel guidelines for LDLR and adaptations for APOB and PCSK9 were reported. Results:
Among 163 patients, the mean highest documented LDL-cholesterol level was 7.47 1.60 mmol/L,
and 79.1% of patients had LDL-cholesterol 6.50 mmol/L. A total of 15 P/LP variants were found
in 34 patients (diagnostic yield: 20.9%): 14 in the LDLR gene and 1 in the APOB gene. Additionally,
24, 54, and 13 VUS were detected in LDLR, APOB, and PCSK9, respectively. No P/LP variants were
identified in the other tested genes. Conclusions: Despite the high clinical likelihood of FH, confirmed
P/LP variants were detected in only 20.9% of patients in the Latvian cohort when assessed with
genome-wide next generation sequencing.This research is funded by the Latvian Council of Science, project “Low-coverage whole-genome sequencing analysis of polygenic mechanisms of high cholesterol levels in patients with
clinically diagnosed or possible familial hypercholesterolemia”, project No. lzp-2020/1-0151.info:eu-repo/semantics/publishedVersio
Early prevention of diabetes microvascular complications in people with hyperglycaemia in Europe. ePREDICE randomized trial. Study protocol, recruitment and selected baseline data
No full textObjectives To assess the effects of early management of hyperglycaemia with antidiabetic drugs plus lifestyle intervention compared with lifestyle alone, on microvascular function in adults with pre-diabetes. Methods Trial design: International, multicenter, randomised, partially double-blind, placebo-controlled, clinical trial. Participants Males and females aged 45-74 years with IFG, IGT or IFG+IGT, recruited from primary care centres in Australia, Austria, Bulgaria, Greece, Kuwait, Poland, Serbia, Spain and Turkey. Intervention Participants were randomized to placebo; metformin 1.700 mg/day; linagliptin 5 mg/day or fixed-dose combination of linagliptin/metformin. All patients were enrolled in a lifestyle intervention program (diet and physical activity). Drug intervention will last 2 years. Primary Outcome: Composite end-point of diabetic retinopathy estimated by the Early Treatment Diabetic Retinopathy Study Score, urinary albumin to creatinine ratio, and skin conductance in feet estimated by the sudomotor index. Secondary outcomes in a subsample include insulin sensitivity, beta-cell function, biomarkers of inflammation and fatty liver disease, quality of life, cognitive function, depressive symptoms and endothelial function. Results One thousand three hundred ninety one individuals with hyperglycaemia were assessed for eligibility, 424 excluded after screening, 967 allocated to placebo, metformin, linagliptin or to fixed-dose combination of metformin + linagliptin. A total of 809 people (91.1%) accepted and initiated the assigned treatment. Study sample after randomization was well balanced among the four groups. No statistical differences for the main risk factors analysed were observed between those accepting or rejecting treatment initiation. At baseline prevalence of diabetic retinopathy was 4.2%, severe neuropathy 5.3% and nephropathy 5.7%. Conclusions ePREDICE is the first -randomized clinical trial with the aim to assess effects of different interventions (lifestyle and pharmacological) on microvascular function in people with prediabetes. The trial will provide novel data on lifestyle modification combined with glucose lowering drugs for the prevention of early microvascular complications and diabetes. © 2020 Gabriel et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
No full textEAS Familial Hypercholesterolaemia Studies Collaboration (FHSC): Antonio J Vallejo-Vaz, Christophe A T Stevens, Alexander R M Lyons, Kanika I Dharmayat, Tomas Freiberger, G Kees Hovingh, Pedro Mata, Frederick J Raal, Raul D Santos, Handrean Soran, Gerald F Watts, Marianne Abifadel, Carlos A Aguilar-Salinas, Khalid F Alhabib, Mutaz Alkhnifsawi, Wael Almahmeed, Fahad Alnouri, Rodrigo Alonso, Khalid Al-Rasadi, Ahmad Al-Sarraf, Nasreen Al-Sayed, Francisco Araujo, Tester F Ashavaid, Maciej Banach, Sophie Béliard, Marianne Benn, Christoph J Binder, Martin P Bogsrud, Mafalda Bourbon, Krzysztof Chlebus, Pablo Corral, Kairat Davletov, Olivier S Descamps, Ronen Durst, Marat Ezhov, Dan Gaita, Jacques Genest, Urh Groselj, Mariko Harada-Shiba, Kirsten B Holven, Meral Kayikcioglu, Weerapan Khovidhunkit, Katarina Lalic, Gustavs Latkovskis, Ulrich Laufs, Evangelos Liberopoulos, Marcos M Lima-Martinez, Jie Lin, Vincent Maher, A David Marais, Winfried März, Erkin Mirrakhimov, André R Miserez, Olena Mitchenko, Hapizah Nawawi, Børge G Nordestgaard, Andrie G Panayiotou, György Paragh, Zaneta Petrulioniene, Belma Pojskic, Arman Postadzhiyan, Katarina Raslova, Ashraf Reda, Željko Reiner, Fouzia Sadiq, Wilson Ehidiamen Sadoh, Heribert Schunkert, Aleksandr B Shek, Mario Stoll, Erik Stroes, Ta-Chen Su, Tavintharan Subramaniam, Andrey V Susekov, Myra Tilney, Brian Tomlinson, Thanh Huong Truong, Alexandros D Tselepis, Anne Tybjærg-Hansen, Alejandra Vázquez Cárdenas, Margus Viigimaa, Luya Wang, Shizuya Yamashita, John J P Kastelein, Eric Bruckert, Branislav Vohnout, Laura Schreier, Jing Pang, Christoph Ebenbichler, Hans Dieplinger, Reinhold Innerhofer, Yvonne Winhofer-Stöckl, Susanne Greber-Platzer, Konstantin Krychtiuk, Walter Speidl, Hermann Toplak, Kurt Widhalm, Thomas Stulnig, Kurt Huber, Florian Höllerl, Gersina Rega-Kaun, Lucas Kleemann, Martin Mäser, Sabine Scholl-Bürgi, Christoph Säly, Florian J Mayer, Gaelle Sablon, Eric Tarantino, Charlotte Nzeyimana, Lamija Pojskic, Ibrahim Sisic, Azra D Nalbantic, Cinthia E Jannes, Alexandre C Pereira, Jose E Krieger, Ivo Petrov, Assen Goudev, Fedya Nikolov, Snejana Tisheva, Yoto Yotov, Ivajlo Tzvetkov, Alexis Baass, Jean Bergeron, Sophie Bernard, Diane Brisson, Liam R Brunham, Lubomira Cermakova, Patrick Couture, Gordon A Francis, Daniel Gaudet, Robert A Hegele, Etienne Khoury, G B John Mancini, Brian W McCrindle, Martine Paquette, Isabelle Ruel, Ada Cuevas, Sylvia Asenjo, Xumin Wang, Kang Meng, Xiantao Song, Qiang Yong, Tao Jiang, Ziyou Liu, Yanyu Duan, Jing Hong, Pucong Ye, Yan Chen, Jianguang Qi, Zesen Liu, Yuntao Li, Chaoyi Zhang, Jie Peng, Ya Yang, Wei Yu, Qian Wang, Hui Yuan, Shitong Cheng, Long Jiang, Mei Chong, Jian Jiao, Yue Wu, Wenhui Wen, Liyuan Xu, Ruiying Zhang, Yichen Qu, Jianxun He, Xuesong Fan, Zhenjia Wang, Elaine Chow, Ivan Pećin, Dražen Perica, Phivos Symeonides, Michal Vrablik, Richard Ceska, Vladimir Soska, Lukas Tichy, Vera Adamkova, Jana Franekova, Renata Cifkova, Pavel Kraml, Katerina Vonaskova, Jana Cepova, Magdalena Dusejovska, Lenka Pavlickova, Vladimir Blaha, Hana Rosolova, Barbora Nussbaumerova, Roman Cibulka, Helena Vaverkova, Lubica Cibickova, Zdenka Krejsova, Katerina Rehouskova, Pavel Malina, Milena Budikova, Vaclava Palanova, Lucie Solcova, Alena Lubasova, Helena Podzimkova, Juraj Bujdak, Jiri Vesely, Marta Jordanova, Tomas Salek, Robin Urbanek, Stanislav Zemek, Jan Lacko, Hana Halamkova, Sona Machacova, Sarka Mala, Eva Cubova, Katerina Valoskova, Lukas Burda, Ahmed Bendary, Ihab Daoud, Sameh Emil, Atef Elbahry, Samir Rafla, Osama Sanad, Ghada Kazamel, Mohamed Ashraf, Mohamed Sobhy, Amro El-Hadidy, Mohamed A Shafy, Saif Kamal, Mohamed Bendary, Grete Talviste, Denis Angoulvant, Franck Boccara, Bertrand Cariou, Valérie Carreau, Alain Carrie, Sybil Charrieres, Yves Cottin, Mathilde Di-Fillipo, Pierre H Ducluzeau, Sonia Dulong, Vincent Durlach, Michel Farnier, Emile Ferrari, Dorota Ferrieres, Jean Ferrieres, Antonio Gallo, Regis Hankard, Jocelyne Inamo, Julie Lemale, Philippe Moulin, François Paillard, Noel Peretti, Agnès Perrin, Alain Pradignac, Jean P Rabes, Vincent Rigalleau, Ariane Sultan, François Schiele, Patrick Tounian, René Valero, Bruno Verges, Cécile Yelnik, Olivier Ziegler, Ira A Haack, Nina Schmidt, Alexander Dressel, Isabel Klein, Jutta Christmann, Antonia Sonntag, Christine Stumpp, Diana Boger, Dana Biedermann, Monica M N Usme, F Ulrich Beil, Gerald Klose, Christel König, Ioanna Gouni-Berthold, Britta Otte, Gereon Böll, Anja Kirschbaum, Jürgen Merke, Johannes Scholl, Thomas Segiet, Marco Gebauer, Florentina Predica, Manfred Mayer, Frank Leistikow, Sabine Füllgraf-Horst, Cornelius Müller, Melanie Schüler, Judith Wiener, Konrad Hein, Peter Baumgartner, Stefan Kopf, Reinhold Busch, Michael Schömig, Stephan Matthias, Nicole Allendorf-Ostwald, Bruno Fink, Dieter Böhm, Alexander Jäkel, Ann-Cathrin Koschker, Rüdiger Schweizer, Anja Vogt, Klaus Parhofer, Wolfgang König, Wibke Reinhard, Andrea Bäßler, Alexander Stadelmann, Volker Schrader, Julius Katzmann, Adrienne Tarr, Elisabeth Steinhagen-Thiessen, Ursula Kassner, Gerret Paulsen, Jürgen Homberger, Claudia Zemmrich, Wolfgang Seeger, Kathrin Biolik, Dorothee Deiss, Corinna Richter, Elina Pantchechnikova, Elena Dorn, Ulrike Schatz, Ulrich Julius, Antje Spens, Tobias Wiesner, Michael Scholl, Christos V Rizos, Nikolaos Sakkas, Moses Elisaf, Ioannis Skoumas, Konstantinos Tziomalos, Loukianos Rallidis, Vasileios Kotsis, Michalis Doumas, Vasileios Athyros, Emmanouil Skalidis, Genovefa Kolovou, Anastasia Garoufi, Eleni Bilianou, Iosif Koutagiar, Dimitrios Agapakis, Estela Kiouri, Christina Antza, Niki Katsiki, Evangelos Zacharis, Achilleas Attilakos, George Sfikas, Charalambos Koumaras, Panagiotis Anagnostis, Georgia Anastasiou, George Liamis, Amalia-Despoina Koutsogianni, Zsolt Karányi, Mariann Harangi, László Bajnok, Mária Audikovszky, László Márk, Béla Benczúr, István Reiber, Gergely Nagy, András Nagy, Lakshmi L Reddy, Swarup A V Shah, Chandrashekhar K Ponde, Jamshed J Dalal, Jitendra P S Sawhney, Ishwar C Verma, Mays Altaey, Khalid Al-Jumaily, Dilshad Rasul, Ali F Abdalsahib, Amer A Jabbar, Mohanad Al-Ageedi, Ruth Agar, Hofit Cohen, Avishay Ellis, Dov Gavishv, Dror Harats, Yaacov Henkin, Hila Knobler, Leah Leavit, Eran Leitersdorf, Ardon Rubinstein, Daniel Schurr, Shoshi Shpitzen, Auryan Szalat, Manuela Casula, Veronica Zampoleri, Marta Gazzotti, Elena Olmastroni, Riccardo Sarzani, Claudio Ferri, Elena Repetti, Carlo Sabbà, Antonio Carlo Bossi, Claudio Borghi, Sandro Muntoni, Francesco Cipollone, Francesco Purrello, Arturo Pujia, Angelina Passaro, Rossella Marcucci, Valerio Pecchioli, Livia Pisciotta, Giuseppe Mandraffino, Fabio Pellegatta, Giuliana Mombelli, Adriana Branchi, Anna Maria Fiorenza, Cristina Pederiva, Josè Pablo Werba, Gianfranco Parati, Francesca Carubbi, Lorenzo Iughetti, Arcangelo Iannuzzi, Gabriella Iannuzzo, Paolo Calabrò, Maurizio Averna, Giacomo Biasucci, Sabina Zambon, Anna Rita Roscini, Chiara Trenti, Marcello Arca, Massimo Federici, Maria Del Ben, Andrea Bartuli, Andrea Giaccari, Antonio Pipolo, Nadia Citroni, Ornella Guardamagna, Katia Bonomo, Andrea Benso, Gianni Biolo, Lorenzo Maroni, Alessandro Lupi, Luca Bonanni, Maria Grazia Zenti, Kota Matsuki, Mika Hori, Masatsune Ogura, Daisaku Masuda, Takuya Kobayashi, Kumiko Nagahama, Mohammed Al-Jarallah, Mirjana Radovic, Olga Lunegova, Erkayim Bektasheva, Elyor Khodzhiboboev, Andrejs Erglis, Dainus Gilis, Georgijs Nesterovics, Vita Saripo, Ruta Meiere, Arta Upena-RozeMicena, Elizabete Terauda, Selim Jambart, Petra E Khoury, Sandy Elbitar, Carine Ayoub, Youmna Ghaleb, Urte Aliosaitiene, Sandra Kutkiene, Noor A M Kasim, Noor S M Nor, Anis S Ramli, Suraya A Razak, Alyaa Al-Khateeb, Siti H S A Kadir, Suhaila A Muid, Thuhairah A Rahman, Sazzli S Kasim, Ahmad B M Radzi, Khairul S Ibrahim, Salmi Razali, Zaliha Ismail, Rohana A Ghani, Muhammad I A Hafidz, Ang L Chua, Marshima M Rosli, Muthukkaruppan Annamalai, Lay K Teh, Rafezah Razali, Yung A Chua, Azhari Rosman, Abdul R Sanusi, Nor A A Murad, A Rahman A Jamal, Sukma A Nazli, Aimi Z Razman, Norhidayah Rosman, Radzi Rahmat, Nur S Hamzan, C Azzopardi, Roopa Mehta, Alexandro J Martagon, Gabriela A G Ramirez, Neftali E A Villa, Arsenio V Vazquez, Daniel Elias-Lopez, Gustavo G Retana, Betsabel Rodriguez, Jose J C Macías, Alejandro R Zazueta, Rocio M Alvarado, Julieta D M Portano, Humberto A Lopez, Leobardo Sauque-Reyna, Laura G G Herrera, Luis E S Mendia, Humberto Garcia Aguilar, Elizabeth R Cooremans, Berenice P Aparicio, Victoria M Zubieta, Perla A C Gonzalez, Aldo Ferreira-Hermosillo, Nacu C Portilla, Guadalupe J Dominguez, Alinna Y R Garcia, Hector E A Cazares, Jesus R Gonzalez, Carla V M Valencia, Francisco G Padilla, Ramon M Prado, Manuel O De Los Rios Ibarra, Ruy D A Villicaña, Karina J A Rivera, Ricardo A Carrera, Jose A Alvarez, Jose C A Martinez, Manuel de Los Reyes Barrera Bustillo, Gonzalo C Vargas, Roberto C Chacon, Mario H F Andrade, Ashanty F Ortega, Hector G Alcala, Laura E G de Leon, Berenice G Guzman, Jose J G Garcia, Juan C G Cuellar, Jose R G Cruz, Anell Hernandez Garcia, Jesus R H Almada, Ursulo J Herrera, Fabiola L Sobrevilla, Eduardo M Rodriguez, Cristina M Sibaja, Alma B M Rodriguez, Jose C M Oyervides, Daniel I P Vazquez, Eduardo A R Rodriguez, Ma L R Osorio, Juan R Saucedo, Margarita T Tamayo, Luis A V Talavera, Luis E V Arroyo, Eloy A Z Carrillo, Alphonsus Isara, Darlington E Obaseki, Khalid Al-Waili, Fahad Al-Zadjali, Ibrahim Al-Zakwani, Mohammed Al-Kindi, Suad Al-Mukhaini, Hamida Al-Barwani, Asim Rana, Lahore S U Shah, Ewa Starostecka, Agnieszka Konopka, Joanna Lewek, Marcin Bartłomiejczyk, Mariusz Gąsior, Krzysztof Dyrbuś, Jacek Jóźwiak, Marcin Gruchała, Marcin Pajkowski, Marzena Romanowska-Kocejko, Marta Żarczyńska-Buchowiecka, Magdalena Chmara, Bartosz Wasąg, Aleksandra Parczewska, Natasza Gilis-Malinowska, Justyna Borowiec-Wolna, Aneta Stróżyk, Marlena Woś, Aleksandra Michalska-Grzonkowska, Ana M Medeiros, Ana C Alves, Francisco Silva, Goreti Lobarinhas, Isabel Palma, Jose P de Moura, Miguel T Rico, Quitéria Rato, Patrícia Pais, Susana Correia, Oana Moldovan, Maria J Virtuoso, Jose M Salgado, Ines Colaço, Andreea Dumitrescu, Calin Lengher, Svetlana Mosteoru, Alexey Meshkov, Alexandra Ershova, Tatiana Rozkova, Victoria Korneva, Kuznetsova T Yu, Vitaliy Zafiraki, Mikhail Voevoda, Victor Gurevich, Dmitry Duplyakov, Yulia Ragino, Maya Safarova, Igor Shaposhnik, Fahmi Alkaf, Alia Khudari, Nawal Rwaili, Faisal Al-Allaf, Mohammad Alghamdi, Mohammed A Batais, Turky H Almigbal, Abdulhalim Kinsara, Ashraf H A AlQudaimi, Zuhier Awan, Omer A Elamin, Hani Altaradi, Natasa Rajkovic, Ljiljana Popovic, Sandra Singh, Ljubica Stosic, Iva Rasulic, Nebojsa M Lalic, Carolyn Lam, Tan J Le, Eric L T Siang, Sanjaya Dissanayake, Justin T I-Shing, Tai E Shyong, Terrance C S Jin, Karin Balinth, Ingrid Buganova, Lubomira Fabryova, Michaela Kadurova, Alexander Klabnik, Miriam Kozárová, Jana Sirotiakova, Tadej Battelino, Jernej Kovac, Matej Mlinaric, Ursa Sustar, Katarina T Podkrajsek, Zlatko Fras, Borut Jug, Matija Cevc, Gillian J Pilcher, D J Blom, K H Wolmarans, B C Brice, Ovidio Muñiz-Grijalvo, Jose L Díaz-Díaz, Leopoldo P de Isla, Francisco Fuentes, Lina Badimon, François Martin, Angela Lux, Nien-Tzu Chang, Poranee Ganokroj, Mehmet Akbulut, Gökhan Alici, Fahri Bayram, Levent H Can, Ahmet Celik, Ceyhun Ceyhan, Fatma Y Coskun, Mesut Demir, Sabri Demircan, Volkan Dogan, Emre Durakoglugil, Ibrahim E Dural, Omer Gedikli, Aysa Hacioglu, Muge Ildizli, Salih Kilic, Bahadir Kirilmaz, Merih Kutlu, Aytekin Oguz, Oner Ozdogan, Ersel Onrat, Savas Ozer, Tevfik Sabuncu, Tayfun Sahin, Fatih Sivri, Alper Sonmez, Ahmet Temizhan, Selim Topcu, Abdullah Tuncez, Mirac Vural, Mustafa Yenercag, Dilek Yesilbursa, Zerrin Yigit, Aytul B Yildirim, Aylin Yildirir, Mehmet B Yilmaz, Bassam Atallah, Mahmoud Traina, Hani Sabbour, Dana A Hay, Neama Luqman, Abubaker Elfatih, Arshad Abdulrasheed, See Kwok, Nicolas D Oca, Ximena Reyes, Rano B Alieva, Ravshanbek D Kurbanov, Shavkat U Hoshimov, Ulugbek I Nizamov, Adolat V Ziyaeva, Guzal J Abdullaeva, Doan L Do, Mai N T Nguyen, Ngoc T Kim, Thanh T Le, Hong A Le, Lale Tokgozoglu, Alberico L Catapano, Kausik K RayEAS Familial Hypercholesterolaemia Studies Collaboration (FHSC): Mafalda Bourbon (INSA)Background: The 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.
Methods: Using 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.
Findings: Of 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 was 5·43 mmol/L (IQR 4·32-6·72) among patients not taking lipid-lowering medications and 4·23 mmol/L (3·20-5·66) among those taking them. Among patients taking lipid-lowering medications, 2·7% had LDL cholesterol lower than 1·8 mmol/L; the use of combination therapy, particularly with three drugs and with proprotein convertase subtilisin-kexin type 9 inhibitors, was associated with a higher proportion and greater odds of having LDL cholesterol lower than 1·8 mmol/L. Compared with index cases, patients who were non-index cases were younger, with lower LDL cholesterol and lower prevalence of cardiovascular risk factors and cardiovascular diseases (all p<0·001).
Interpretation: Familial hypercholesterolaemia is diagnosed late. Guideline-recommended LDL cholesterol concentrations are infrequently achieved with single-drug therapy. Cardiovascular risk factors and presence of coronary disease were lower among non-index cases, who were diagnosed earlier. Earlier detection and greater use of combination therapies are required to reduce the global burden of familial hypercholesterolaemia.Pfizer, Amgen, Merck Sharp & Dohme, Sanofi-Aventis, Daiichi Sankyo, and Regeneron.info:eu-repo/semantics/publishedVersio
Proceedings of the 4th World Conference on Research Integrity
No full textFor a complete list of authors, please look at article.Table of contents
I1 Proceedings of the 4th World Conference on Research Integrity
Concurrent Sessions:
1. Countries' systems and policies to foster research integrity
CS01.1 Second time around: Implementing and embedding a review of responsible conduct of research policy and practice in an Australian research-intensive university
Susan Patricia O'Brien
CS01.2 Measures to promote research integrity in a university: the case of an Asian university
Danny Chan, Frederick Leung
2. Examples of research integrity education programmes in different countries
CS02.1 Development of a state-run “cyber education program of research ethics” in Korea
Eun Jung Ko, Jin Sun Kwak, TaeHwan Gwon, Ji Min Lee, Min-Ho Lee
CS02.3 Responsible conduct of research teachers’ training courses in Germany: keeping on drilling through hard boards for more RCR teachers
Helga Nolte, Michael Gommel, Gerlinde Sponholz
3. The research environment and policies to encourage research integrity
CS03.1 Challenges and best practices in research integrity: bridging the gap between policy and practice
Yordanka Krastev, Yamini Sandiran, Julia Connell, Nicky Solomon
CS03.2 The Slovenian initiative for better research: from national activities to global reflections
Ursa Opara Krasovec, Renata Sribar
CS03.3 Organizational climate assessments to support research integrity: background of the Survey of Organizational Research Climate (SOuRCe) and the experience with its use at Michigan State University
Brian C. Martinson, Carol R. Thrush, C.K. Gunsalus
4. Expressions of concern and retractions
CS04.1 Proposed guidelines for retraction notices and their dissemination
Ivan Oransky, Adam Marcus
CS04.2 Watching retractions: analysis of process and practice, with data from the Wiley retraction archives
Chris Graf, Verity Warne, Edward Wates, Sue Joshua
CS04.3 An exploratory content analysis of Expressions of Concern
Miguel Roig
CS04.4 An ethics researcher in the retraction process
Michael Mumford
5. Funders' role in fostering research integrity
CS05.1 The Fonds de Recherche du Québec’s institutional rules on the responsible conduct of research: introspection in the funding agency activities
Mylène Deschênes, Catherine Olivier, Raphaëlle Dupras-Leduc
CS05.2 U.S. Public Health Service funds in an international setting: research integrity and compliance
Zoë Hammatt, Raju Tamot, Robin Parker, Cynthia Ricard, Loc Nguyen-Khoa, Sandra Titus
CS05.3 Analyzing decision making of funders of public research as a case of information asymmetry
Karsten Klint Jensen
CS05.4 Research integrity management: Empirical investigation of academia versus industry
Simon Godecharle, Ben Nemery, Kris Dierickx
5A: Education: For whom, how, and what?
CS05A.1 Research integrity or responsible conduct of research? What do we aim for?
Mickey Gjerris, Maud Marion Laird Eriksen, Jeppe Berggren Hoej
CS05A.2 Teaching and learning about RCR at the same time: a report on Epigeum’s RCR poll questions and other assessment activities
Nicholas H. Steneck
CS05A.4 Minding the gap in research ethics education: strategies to assess and improve research competencies in community health workers/promoteres
Camille Nebeker, Michael Kalichman, Elizabeth Mejia Booen, Blanca Azucena Pacheco, Rebeca Espinosa Giacinto, Sheila Castaneda
6. Country examples of research reward systems and integrity
CS06.1 Improving systems to promote responsible research in the Chinese Academy of Sciences
Ding Li, Qiong Chen, Guoli Zhu, Zhonghe Sun
CS06.4 Exploring the perception of research integrity amongst public health researchers in India
Parthasarathi Ganguly, Barna Ganguly
7. Education and guidance on research integrity: country differences
CS07.1 From integrity to unity: how research integrity guidance differs across universities in Europe.
Noémie Aubert Bonn, Kris Dierickx, Simon Godecharle
CS07.2 Can education and training develop research integrity? The spirit of the UNESCO 1974 recommendation and its updating
Daniele Bourcier, Jacques Bordé, Michèle Leduc
CS07.3 The education and implementation mechanisms of research ethics in Taiwan's higher education: an experience in Chinese web-based curriculum development for responsible conduct of research
Chien Chou, Sophia Jui-An Pan
CS07.4 Educating principal investigators in Swiss research institutions: present and future perspectives
Louis Xaver Tiefenauer
8. Measuring and rewarding research productivity
CS08.1 Altimpact: how research integrity underpins research impact
Daniel Barr, Paul Taylor
CS08.2 Publication incentives: just reward or misdirection of funds?
Lyn Margaret Horn
CS08.3 Why Socrates never charged a fee: factors contributing to challenges for research integrity and publication ethics
Deborah Poff
9. Plagiarism and falsification: Behaviour and detection
CS09.1 Personality traits predict attitude towards plagiarism of self and others in biomedicine: plagiarism, yes we can?
Martina Mavrinac, Gordana Brumini, Mladen Petrovečki
CS09.2 Investigating the concept of and attitudes toward plagiarism for science teachers in Brazil: any challenges for research integrity and policy?
Christiane Coelho Santos, Sonia Vasconcelos
CS09.3 What have we learnt?: The CrossCheck Service from CrossRef
Rachael Lammey
CS09.4 High p-values as a sign of data fabrication/falsification
Chris Hartgerink, Marcel van Assen, Jelte Wicherts
10. Codes for research integrity and collaborations
CS10.1 Research integrity in cross-border cooperation: a Nordic example
Hanne Silje Hauge
CS10.3 Research integrity, research misconduct, and the National Science Foundation's requirement for the responsible conduct of research
Aaron Manka
CS10.4 A code of conduct for international scientific cooperation: human rights and research integrity in scientific collaborations with international academic and industry partners
Raffael Iturrizaga
11. Countries' efforts to establish mentoring and networks
CS11.1 ENRIO (European Network of Research Integrity Offices): a network facilitating common approaches on research integrity in Europe
Nicole Foeger
CS11.2 Helping junior investigators develop in a resource-limited country: a mentoring program in Peru
A. Roxana Lescano, Claudio Lanata, Gissella Vasquez, Leguia Mariana, Marita Silva, Mathew Kasper, Claudia Montero, Daniel Bausch, Andres G Lescano
CS11.3 Netherlands Research Integrity Network: the first six months
Fenneke Blom, Lex Bouter
CS11.4 A South African framework for research ethics and integrity for researchers, postgraduate students, research managers and administrators
Laetus OK Lategan
12. Training and education in research integrity at an early career stage
CS12.1 Research integrity in curricula for medical students
Gustavo Fitas Manaia
CS12.2 Team-based learning for training in the responsible conduct of research supports ethical decision-making
Wayne T. McCormack, William L. Allen, Shane Connelly, Joshua Crites, Jeffrey Engler, Victoria Freedman, Cynthia W. Garvan, Paul Haidet, Joel Hockensmith, William McElroy, Erik Sander, Rebecca Volpe, Michael F. Verderame
CS12.4 Research integrity and career prospects of junior researchers
Snezana Krstic
13. Systems and research environments in institutions
CS13.1 Implementing systems in research institutions to improve quality and reduce risk
Louise Handy
CS13.2 Creating an institutional environment that supports research integrity
Debra Schaller-Demers
CS13.3 Ethics and Integrity Development Grants: a mechanism to foster cultures of ethics and integrity
Paul Taylor, Daniel Barr
CS13.4 A culture of integrity at KU Leuven
Inge Lerouge, Gerard Cielen, Liliane Schoofs
14. Peer review and its role in research integrity
CS14.1 Peer review research across disciplines: transdomain action in the European Cooperation in Science and Technology (COST) “New Frontiers of Peer Review (PEERE)”
Ana Marusic, Flaminio Squazzoni
CS14.2 Using blinding to reduce bias in peer review
David Vaux
CS14.3 How to intensify the role of reviewers to promote research integrity
Khalid Al-Wazzan, Ibrahim Alorainy
CS14.4 Credit where credit’s due: professionalizing and rewarding the role of peer reviewer
Chris Graf, Verity Warne
15. Research ethics and oversight for research integrity: Does it work?
CS15.1 The psychology of decision-making in research ethics governance structures: a theory of bounded rationality
Nolan O'Brien, Suzanne Guerin, Philip Dodd
CS15.2 Investigator irregularities: iniquity, ignorance or incompetence?
Frank Wells, Catherine Blewett
CS15.3 Academic plagiarism
Fredric M. Litto
16. Research integrity in Europe
CS16.1 Whose responsibility is it anyway?: A comparative analysis of core concepts and practice at European research-intensive universities to identify and develop good practices in research integrity
Itziar De Lecuona, Erika Löfstrom, Katrien Maes
CS16.2 Research integrity guidance in European research universities
Kris Dierickx, Noémie Bonn, Simon Godecharle
CS16.3 Research Integrity: processes and initiatives in Science Europe member organisations
Tony Peatfield, Olivier Boehme, Science Europe Working Group on Research Integrity
CS16.4 Promoting research integrity in Italy: the experience of the Research Ethics and Bioethics Advisory Committee of the Consiglio Nazionale delle Ricerche (CNR)
Cinzia Caporale, Daniele Fanelli
17. Training programs for research integrity at different levels of experience and seniority
CS17.1 Meaningful ways to incorporate research integrity and the responsible conduct of research into undergraduate, graduate, postdoctoral and faculty training programs
John Carfora, Eric Strauss, William Lynn
CS17.2 "Recognize, respond, champion": Developing a one-day interactive workshop to increase confidence in research integrity issues
Dieter De Bruyn, Bracke Nele, Katrien De Gelder, Stefanie Van der Burght
CS17.4 “Train the trainer” on cultural challenges imposed by international research integrity conversations: lessons from a project
José Roberto Lapa e Silva, Sonia M. R. Vasconcelos
18. Research and societal responsibility
CS18.1 Promoting the societal responsibility of research as an integral part of research integrity
Helene Ingierd
CS18.2 Social responsibility as an ethical imperative for scientists: research, education and service to society
Mark Frankel
CS18.3 The intertwined nature of social responsibility and hope in science
Daniel Vasgird, Stephanie Bird
CS18.4 Common barriers that impede our ability to create a culture of trustworthiness in the research community
Mark Yarborough
19. Publication ethics
CS19.1 The authors' forum: A proposed tool to improve practices of journal editors and promote a responsible research environment
Ibrahim Alorainy, Khalid Al-Wazzan
CS19.2 Quantifying research integrity and its impact with text analytics
Harold Garner
CS19.3 A closer look at authorship and publication ethics of multi- and interdisciplinary teams
Lisa Campo-Engelstein, Zubin Master, Elise Smith, David Resnik, Bryn Williams-Jones
CS19.4 Invisibility of duplicate publications in biomedicine
Mario Malicki, Ana Utrobicic, Ana Marusic
20. The causes of bad and wasteful research: What can we do?
CS20.1 From countries to individuals: unravelling the causes of bias and misconduct with multilevel meta-meta-analysis
Daniele Fanelli, John PA Ioannidis
CS20.2 Reducing research waste by integrating systems of oversight and regulation
Gerben ter Riet, Tom Walley, Lex Marius Bouter
CS20.3 What are the determinants of selective reporting?: The example of palliative care for non-cancer conditions
Jenny van der Steen, Lex Bouter
CS20.4 Perceptions of plagiarism, self-plagiarism and redundancy in research: preliminary results from a national survey of Brazilian PhDs
Sonia Vasconcelos, Martha Sorenson, Francisco Prosdocimi, Hatisaburo Masuda, Edson Watanabe, José Carlos Pinto, Marisa Palácios, José Lapa e Silva, Jacqueline Leta, Adalberto Vieyra, André Pinto, Mauricio Sant’Ana, Rosemary Shinkai
21. Are there country-specific elements of misconduct?
CS21.1 The battle with plagiarism in Russian science: latest developments
Boris Yudin
CS21.2 Researchers between ethics and misconduct: A French survey on social representations of misconduct and ethical standards within the scientific community
Etienne Vergès, Anne-Sophie Brun-Wauthier, Géraldine Vial
CS21.3 Experience from different ways of dealing with research misconduct and promoting research integrity in some Nordic countries
Torkild Vinther
CS21.4 Are there specifics in German research misconduct and the ways to cope with it?
Volker Bähr, Charité
22. Research integrity teaching programmes and their challenges
CS22.1 Faculty mentors and research integrity
Michael Kalichman, Dena Plemmons
CS22.2 Training the next generation of scientists to use principles of research quality assurance to improve data integrity and reliability
Rebecca Lynn Davies, Katrina Laube
CS22.3 Fostering research integrity in a culturally-diverse environment
Cynthia Scheopner, John Galland
CS22.4 Towards a standard retraction form
Hervé Maisonneuve, Evelyne Decullier
23. Commercial research and integrity
CS23.1 The will to commercialize: matters of concern in the cultural economy of return-on-investment research
Brian Noble
CS23.2 Quality in drug discovery data reporting: a mission impossible?
Anja Gilis, David J. Gallacher, Tom Lavrijssen, Malwitz David, Malini Dasgupta, Hans Mols
CS23.3 Instituting a research integrity policy in the context of semi-private-sector funding: an example in the field of occupational health and safety
Paul-Emile Boileau
24. The interface of publication ethics and institutional policies
CS24.1 The open access ethical paradox in an open government effort
Tony Savard
CS24.2 How journals and institutions can work together to promote responsible conduct
Eric Mah
CS24.3 Improving cooperation between journals and research institutions in research integrity cases
Elizabeth Wager, Sabine Kleinert
25. Reproducibility of research and retractions
CS25.1 Promoting transparency in publications to reduce irreproducibility
Veronique Kiermer, Andrew Hufton, Melanie Clyne
CS25.2 Retraction notices issued for publications by Latin American authors: what lessons can we learn?
Sonia Vasconcelos, Renan Moritz Almeida, Aldo Fontes-Pereira, Fernanda Catelani, Karina Rocha
CS25.3 A preliminary report of the findings from the Reproducibility Project: Cancer biology
Elizabeth Iorns, William Gunn
26. Research integrity and specific country initiatives
CS26.1 Promoting research integrity at CNRS, France
Michèle Leduc, Lucienne Letellier
CS26.2 In pursuit of compliance: is the tail wagging the dog?
Cornelia Malherbe
CS26.3 Newly established research integrity policies and practices: oversight systems of Japanese research universities
Takehito Kamata
27. Responsible conduct of research and country guidelines
CS27.1 Incentives or guidelines? Promoting responsible research communication through economic incentives or ethical guidelines?
Vidar Enebakk
CS27.3 Responsible conduct of research: a view from Canada
Lynn Penrod
CS27.4 The Danish Code of Conduct for Research Integrity: a national initiative to promote research integrity in Denmark
Thomas Nørgaard, Charlotte Elverdam
28. Behaviour, trust and honesty
CS28.1 The reasons behind non-ethical behaviour in academia
Yves Fassin
CS28.2 The psychological profile of the dishonest scholar
Cynthia Fekken
CS28.3 Considering the implications of Dan Ariely’s keynote speech at the 3rd World Conference on Research Integrity in Montréal
Jamal Adam, Melissa S. Anderson
CS28.4 Two large surveys on psychologists’ views on peer review and replication
Jelte Wicherts
Brett Buttliere
29. Reporting and publication bias and how to overcome it
CS29.1 Data sharing: Experience at two open-access general medical journals
Trish Groves
CS29.2 Overcoming publication bias and selective reporting: completing the published record
Daniel Shanahan
CS29.3 The EQUATOR Network: promoting responsible reporting of health research studies
Iveta Simera, Shona Kirtley, Eleana Villanueva, Caroline Struthers, Angela MacCarthy, Douglas Altman
30. The research environment and its implications for integrity
CS30.1 Ranking of scientists: the Russian experience
Elena Grebenshchikova
CS30.4 From cradle to grave: research integrity, research misconduct and cultural shifts
Bronwyn Greene, Ted Rohr
PARTNER SYMPOSIA
Partner Symposium A
Organized by EQUATOR Network, Enhancing the Quality and Transparency of Health Research
P1 Can we trust the medical research literature?: Poor reporting and its consequences
Iveta Simera
P2 What can BioMed Central do to improve published research?
Daniel Shanahan, Stephanie Harriman
P3 What can a "traditional" journal do to improve published research?
Trish Groves
P4 Promoting good reporting practice for reliable and usable research papers: EQUATOR Network, reporting guidelines and other initiatives
Caroline Struthers
Partner Symposium C
Organized by ENRIO, the European Network of Research Integrity Officers
P5 Transparency and independence in research integrity investigations in Europe
Krista Varantola, Helga Nolte, Ursa Opara, Torkild Vinther, Elizabeth Wager, Thomas Nørgaard
Partner Symposium D
Organized by IEEE, the Institute of Electrical and Electronics Engineers
Re-educating our author community: IEEE's approach to bibliometric manipulation, plagiarism, and other inappropriate practices
P6 Dealing with plagiarism in the connected world: An Institute of Electrical and Electronics Engineers (IEEE) perspective
Jon Rokne
P7 Should evaluation of raises, promotion, and research proposals be tied to bibliometric indictors? What the Institute of Electrical and Electronics Engineers (IEEE) is doing to answer this question
Gianluca Setti
P8 Recommended practices to ensure conference content quality
Gordon MacPherson
Partner Symposium E
Organized by the Committee on Freedom and Responsibility in the Conduct of Science of ICSU, the International Council for Science
Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
No full textBackground 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
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
No full textBackground
The 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.
Methods
Using 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.
Findings
Of 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 was 5·43 mmol/L (IQR 4·32–6·72) among patients not taking lipid-lowering medications and 4·23 mmol/L (3·20–5·66) among those taking them. Among patients taking lipid-lowering medications, 2·7% had LDL cholesterol lower than 1·8 mmol/L; the use of combination therapy, particularly with three drugs and with proprotein convertase subtilisin–kexin type 9 inhibitors, was associated with a higher proportion and greater odds of having LDL cholesterol lower than 1·8 mmol/L. Compared with index cases, patients who were non-index cases were younger, with lower LDL cholesterol and lower prevalence of cardiovascular risk factors and cardiovascular diseases (all p<0·001).
Interpretation
Familial hypercholesterolaemia is diagnosed late. Guideline-recommended LDL cholesterol concentrations are infrequently achieved with single-drug therapy. Cardiovascular risk factors and presence of coronary disease were lower among non-index cases, who were diagnosed earlier. Earlier detection and greater use of combination therapies are required to reduce the global burden of familial hypercholesterolaemia.
Funding
Pfizer, Amgen, Merck Sharp & Dohme, Sanofi–Aventis, Daiichi Sankyo, and Regeneron
Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
No full textBackground 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.</p
