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IRIS
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. Funding: Pfizer, Amgen, Merck Sharp & Dohme, Sanofi–Aventis, Daiichi Sankyo, and Regeneron.
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
Vallejo-Vaz A. J.
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D.;Tybjaerg-Hansen A.;Vazquez Cardenas A.;Viigimaa M.;Wang L.;Yamashita S.;Kastelein J. J. P.;Bruckert E.;Vohnout B.;Schreier L.;Pang J.;Ebenbichler C.;Dieplinger H.;Innerhofer R.;Winhofer-Stockl Y.;Greber-Platzer S.;Krychtiuk K.;Speidl W.;Toplak H.;Widhalm K.;Stulnig T.;Huber K.;Hollerl F.;Rega-Kaun G.;Kleemann L.;Maser M.;Scholl-Burgi S.;Saly C.;Mayer F. J.;Sablon G.;Tarantino E.;Nzeyimana C.;Pojskic L.;Sisic I.;Nalbantic A. D.;Jannes C. E.;Pereira A. C.;Krieger J. E.;Petrov I.;Goudev A.;Nikolov F.;Tisheva S.;Yotov Y.;Tzvetkov I.;Baass A.;Bergeron J.;Bernard S.;Brisson D.;Brunham L. R.;Cermakova L.;Couture P.;Francis G. A.;Gaudet D.;Hegele R. A.;Khoury E.;Mancini G. B. J.;McCrindle B. W.;Paquette M.;Ruel I.;Cuevas A.;Asenjo S.;Wang X.;Meng K.;Song X.;Yong Q.;Jiang T.;Liu Z.;Duan Y.;Hong J.;Ye P.;Chen Y.;Qi J.;Liu Z.;Li Y.;Zhang C.;Peng J.;Yang Y.;Yu W.;Wang Q.;Yuan H.;Cheng S.;Jiang L.;Chong M.;Jiao J.;Wu Y.;Wen W.;Xu L.;Zhang R.;Qu Y.;He J.;Fan X.;Wang Z.;Chow E.;Pecin I.;Perica D.;Symeonides P.;Vrablik M.;Ceska R.;Soska V.;Tichy L.;Adamkova V.;Franekova J.;Cifkova R.;Kraml P.;Vonaskova K.;Cepova J.;Dusejovska M.;Pavlickova L.;Blaha V.;Rosolova H.;Nussbaumerova B.;Cibulka R.;Vaverkova H.;Cibickova L.;Krejsova Z.;Rehouskova K.;Malina P.;Budikova M.;Palanova V.;Solcova L.;Lubasova A.;Podzimkova H.;Bujdak J.;Vesely J.;Jordanova M.;Salek T.;Urbanek R.;Zemek S.;Lacko J.;Halamkova H.;Machacova S.;Mala S.;Cubova E.;Valoskova K.;Burda L.;Bendary A.;Daoud I.;Emil S.;Elbahry A.;Rafla S.;Sanad O.;Kazamel G.;Ashraf M.;Sobhy M.;El-Hadidy A.;Shafy M. 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U.;Klose G.;Konig C.;Gouni-Berthold I.;Otte B.;Boll G.;Kirschbaum A.;Merke J.;Scholl J.;Segiet T.;Gebauer M.;Predica F.;Mayer M.;Leistikow F.;Fullgraf-Horst S.;Muller C.;Schuler M.;Wiener J.;Hein K.;Baumgartner P.;Kopf S.;Busch R.;Schomig M.;Matthias S.;Allendorf-Ostwald N.;Fink B.;Bohm D.;Jakel A.;Koschker A. -C.;Schweizer R.;Vogt A.;Parhofer K.;Konig W.;Reinhard W.;Bassler A.;Stadelmann A.;Schrader V.;Katzmann J.;Tarr A.;Steinhagen-Thiessen E.;Kassner U.;Paulsen G.;Homberger J.;Zemmrich C.;Seeger W.;Biolik K.;Deiss D.;Richter C.;Pantchechnikova E.;Dorn E.;Schatz U.;Julius U.;Spens A.;Wiesner T.;Scholl M.;Rizos C. V.;Sakkas N.;Elisaf M.;Skoumas I.;Tziomalos K.;Rallidis L.;Kotsis V.;Doumas M.;Athyros V.;Skalidis E.;Kolovou G.;Garoufi A.;Bilianou E.;Koutagiar I.;Agapakis D.;Kiouri E.;Antza C.;Katsiki N.;Zacharis E.;Attilakos A.;Sfikas G.;Koumaras C.;Anagnostis P.;Anastasiou G.;Liamis G.;Koutsogianni A. -D.;Karanyi Z.;Harangi M.;Bajnok L.;Audikovszky M.;Mark L.;Benczur B.;Reiber I.;Nagy G.;Nagy A.;Reddy L. L.;Shah S. A. V.;Ponde C. K.;Dalal J. J.;Sawhney J. P. S.;Verma I. C.;Altaey M.;Al-Jumaily K.;Rasul D.;Abdalsahib A. F.;Jabbar A. A.;Al-ageedi M.;Agar R.;Cohen H.;Ellis A.;Gavishv D.;Harats D.;Henkin Y.;Knobler H.;Leavit L.;Leitersdorf E.;Rubinstein A.;Schurr D.;Shpitzen S.;Szalat A.;Casula M.;Zampoleri V.;Gazzotti M.;Olmastroni E.;Sarzani R.;Ferri C.;Repetti E.;Sabba C.;Bossi A. C.;Borghi C.;Muntoni S.;Cipollone F.;Purrello F.;Pujia A.;Passaro A.;Marcucci R.;Pecchioli V.;Pisciotta L.;Mandraffino G.;Pellegatta F.;Mombelli G.;Branchi A.;Fiorenza A. M.;Pederiva C.;Werba J. P.;Parati G.;Carubbi F.;Iughetti L.;Iannuzzi A.;Iannuzzo G.;Calabro P.;Averna M.;Biasucci G.;Zambon S.;Roscini A. R.;Trenti C.;Arca M.;Federici M.;Del Ben M.;Bartuli A.;Giaccari A.;Pipolo A.;Citroni N.;Guardamagna O.;Bonomo K.;Benso A.;Biolo G.;Maroni L.;Lupi A.;Bonanni L.;Zenti M. G.;Matsuki K.;Hori M.;Ogura M.;Masuda D.;Kobayashi T.;Nagahama K.;Al-Jarallah M.;Radovic M.;Lunegova O.;Bektasheva E.;Khodzhiboboev E.;Erglis A.;Gilis D.;Nesterovics G.;Saripo V.;Meiere R.;Upena-RozeMicena A.;Terauda E.;Jambart S.;Khoury P. E.;Elbitar S.;Ayoub C.;Ghaleb Y.;Aliosaitiene U.;Kutkiene S.;Kasim N. A. M.;Nor N. S. M.;Ramli A. S.;Razak S. A.;Al-Khateeb A.;Kadir S. H. S. A.;Muid S. A.;Rahman T. A.;Kasim S. S.;Radzi A. B. M.;Ibrahim K. S.;Razali S.;Ismail Z.;Ghani R. A.;Hafidz M. I. A.;Chua A. L.;Rosli M. M.;Annamalai M.;Teh L. K.;Razali R.;Chua Y. A.;Rosman A.;Sanusi A. R.;Murad N. A. A.;Jamal A. R. A.;Nazli S. A.;Razman A. Z.;Rosman N.;Rahmat R.;Hamzan N. S.;Azzopardi C.;Mehta R.;Martagon A. J.;Ramirez G. A. G.;Villa N. E. A.;Vazquez A. V.;Elias-Lopez D.;Retana G. G.;Rodriguez B.;Macias J. J. C.;Zazueta A. R.;Alvarado R. M.;Portano J. D. M.;Lopez H. A.;Sauque-Reyna L.;Herrera L. G. G.;Mendia L. E. S.;Aguilar H. G.;Cooremans E. R.;Aparicio B. P.;Zubieta V. M.;Gonzalez P. A. C.;Ferreira-Hermosillo A.;Portilla N. C.;Dominguez G. J.;Garcia A. Y. R.;Cazares H. E. A.;Gonzalez J. R.;Valencia C. V. M.;Padilla F. G.;Prado R. M.;De los Rios Ibarra M. O.;Villicana R. D. A.;Rivera K. J. A.;Carrera R. A.;Alvarez J. A.;Martinez J. C. A.;de los Reyes Barrera Bustillo M.;Vargas G. C.;Chacon R. C.;Andrade M. H. F.;Ortega A. F.;Alcala H. G.;de Leon L. E. G.;Guzman B. G.;Garcia J. J. G.;Cuellar J. C. G.;Cruz J. R. G.;Garcia A. H.;Almada J. R. H.;Herrera U. J.;Sobrevilla F. L.;Rodriguez E. M.;Sibaja C. M.;Rodriguez A. B. M.;Oyervides J. C. M.;Vazquez D. I. P.;Rodriguez E. A. R.;Osorio M. L. R.;Saucedo J. R.;Tamayo M. T.;Talavera L. A. V.;Arroyo L. E. V.;Carrillo E. A. Z.;Isara A.;Obaseki D. E.;Al-Waili K.;Al-Zadjali F.;Al-Zakwani I.;Al-Kindi M.;Al-Mukhaini S.;Al-Barwani H.;Rana A.;Shah L. S. U.;Starostecka E.;Konopka A.;Lewek J.;Bartlomiejczyk M.;Gasior M.;Dyrbus K.;Jozwiak J.;Gruchala M.;Pajkowski M.;Romanowska-Kocejko M.;Zarczynska-Buchowiecka M.;Chmara M.;Wasag B.;Parczewska A.;Gilis-Malinowska N.;Borowiec-Wolna J.;Strozyk A.;Wos M.;Michalska-Grzonkowska A.;Medeiros A. M.;Alves A. C.;Silva F.;Lobarinhas G.;Palma I.;de Moura J. P.;Rico M. T.;Rato Q.;Pais P.;Correia S.;Moldovan O.;Virtuoso M. J.;Salgado J. M.;Colaco I.;Dumitrescu A.;Lengher C.;Mosteoru S.;Meshkov A.;Ershova A.;Rozkova T.;Korneva V.;Yu K. T.;Zafiraki V.;Voevoda M.;Gurevich V.;Duplyakov D.;Ragino Y.;Safarova M.;Shaposhnik I.;Alkaf F.;Khudari A.;Rwaili N.;Al-Allaf F.;Alghamdi M.;Batais M. A.;Almigbal T. H.;Kinsara A.;AlQudaimi A. H. A.;Awan Z.;Elamin O. A.;Altaradi H.;Rajkovic N.;Popovic L.;Singh S.;Stosic L.;Rasulic I.;Lalic N. M.;Lam C.;Le T. J.;Siang E. L. T.;Dissanayake S.;I-Shing J. T.;Shyong T. E.;Jin T. C. S.;Balinth K.;Buganova I.;Fabryova L.;Kadurova M.;Klabnik A.;Kozarova M.;Sirotiakova J.;Battelino T.;Kovac J.;Mlinaric M.;Sustar U.;Podkrajsek K. T.;Fras Z.;Jug B.;Cevc M.;Pilcher G. J.;Blom D. J.;Wolmarans K. H.;Brice B. C.;Muniz-Grijalvo O.;Diaz-Diaz J. L.;de Isla L. P.;Fuentes F.;Badimon L.;Martin F.;Lux A.;Chang N. -T.;Ganokroj P.;Akbulut M.;Alici G.;Bayram F.;Can L. H.;Celik A.;Ceyhan C.;Coskun F. Y.;Demir M.;Demircan S.;Dogan V.;Durakoglugil E.;Dural I. E.;Gedikli O.;Hacioglu A.;Ildizli M.;Kilic S.;Kirilmaz B.;Kutlu M.;Oguz A.;Ozdogan O.;Onrat E.;Ozer S.;Sabuncu T.;Sahin T.;Sivri F.;Sonmez A.;Temizhan A.;Topcu S.;Tuncez A.;Vural M.;Yenercag M.;Yesilbursa D.;Yigit Z.;Yildirim A. B.;Yildirir A.;Yilmaz M. B.;Atallah B.;Traina M.;Sabbour H.;Hay D. A.;Luqman N.;Elfatih A.;Abdulrasheed A.;Kwok S.;Oca N. D.;Reyes X.;Alieva R. B.;Kurbanov R. D.;Hoshimov S. U.;Nizamov U. I.;Ziyaeva A. V.;Abdullaeva G. J.;Do D. L.;Nguyen M. N. T.;Kim N. T.;Le T. T.;Le H. A.;Tokgozoglu L.;Catapano A. L.;Ray K. K.
2021-01-01
Abstract
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. Funding: Pfizer, Amgen, Merck Sharp & Dohme, Sanofi–Aventis, Daiichi Sankyo, and Regeneron.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11586/447180
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simulazione ASN
Il report seguente simula gli indicatori relativi alla propria produzione scientifica in relazione alle soglie ASN 2023-2025 del proprio SC/SSD. Si ricorda che il superamento dei valori soglia (almeno 2 su 3) è requisito necessario ma non sufficiente al conseguimento dell'abilitazione. La simulazione si basa sui dati IRIS e sugli indicatori bibliometrici alla data indicata e non tiene conto di eventuali periodi di congedo obbligatorio, che in sede di domanda ASN danno diritto a incrementi percentuali dei valori. La simulazione può differire dall'esito di un’eventuale domanda ASN sia per errori di catalogazione e/o dati mancanti in IRIS, sia per la variabilità dei dati bibliometrici nel tempo. Si consideri che Anvur calcola i valori degli indicatori all'ultima data utile per la presentazione delle domande.
La presente simulazione è stata realizzata sulla base delle specifiche raccolte sul tavolo ER del Focus Group IRIS coordinato dall’Università di Modena e Reggio Emilia e delle regole riportate nel DM 589/2018 e allegata Tabella A. Cineca, l’Università di Modena e Reggio Emilia e il Focus Group IRIS non si assumono alcuna responsabilità in merito all’uso che il diretto interessato o terzi faranno della simulazione. Si specifica inoltre che la simulazione contiene calcoli effettuati con dati e algoritmi di pubblico dominio e deve quindi essere considerata come un mero ausilio al calcolo svolgibile manualmente o con strumenti equivalenti.
