Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

EAS 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

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

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

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

EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) investigators - Portugal: Mafalda Bourbon (NLI), Ana C. Alves, Ana M. Medeiros (Unidade I&D, Grupo de Investigação Cardiovascular, Dept. de Promoção da Saúde e Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa; University of Lisboa, Faculty of Sciences, BioISI – Biosystems & Integrative Sciences Institute, Lisboa).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.Highlights: The EAS FHSC is an international initiative involving a network of investigators interested in FH from around 70 countries; Information on FH prevalence is lacking in most countries; where available, data tend to align with contemporary estimates; FH diagnosis and management varies widely across countries, with overall suboptimal identification and under-treatment; In most countries diagnosis primarily relies on DLCN criteria, and less frequently on Simon Broom or MEDPED; Therapy for FH is not universally reimbursed, and criteria vary across countries. Access to PCSK9i and apheresis is limited.info:eu-repo/semantics/publishedVersio

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.status: publishe