Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia

Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia

IMPORTANCE Homozygous familial hypercholesterolemia (HoFH) is a rare genetic condition characterized by extremely increased low-density lipoprotein (LDL) cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Heterozygous familial hypercholesterolemia (HeFH) is more common...

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Published in:JAMA Cardiology
Main Author: Mulder J.W.C.M.; Tromp T.R.; Al-Khnifsawi M.; Blom D.J.; Chlebus K.; Cuchel M.; D'Erasmo L.; Gallo A.; Hovingh G.K.; Kim N.T.; Long J.; Raal F.J.; Schonck W.A.M.; Soran H.; Truong T.-H.; Boersma E.; Roeters van Lennep J.E.; Alareedh M.D.; Alieva R.; Allevi M.; Altunkeser B.B.; Al-Waili K.; Al-Zamili A.F.; Arca M.; Atzori L.; Averna M.; Ayesh M.H.; Azar S.T.; Banderali G.; Baratta F.; Bartuli A.; Béliard S.; Bianconi V.; Bini S.; Thani K.B.; Bitar F.F.; Blaha V.; Bonomo K.; Bourbon M.; Branchi A.; Brothers J.A.; Bruckert E.; Brunham L.R.; Bruzzi P.; Bucci M.; Buonuomo P.S.; Calabrò P.; Calandra S.; Carubbi F.; Cassiman D.; Casula M.; Catapano A.L.; Cavalot F.; Cefalù A.B.; Cesaro A.; Ceska R.; Charng M.-J.; Cipollone F.; Cohen H.; D'Addato S.; Dal Pino B.; Dann E.J.; Defesche J.C.; Del Ben M.; Demircioglu S.; Descamps O.S.; Di Costanzo A.; Di Taranto M.D.; Do D.-L.; Durst R.; Dvorakova J.; Ebenbichler C.F.; Elis A.; Emil S.; Ezhov M.V.; Fahed A.C.; Fasano T.; Ferri C.; Fogacci F.; Formisano E.; Fortunato G.; Francis G.A.; Freiberger T.; Galimberti F.; Gaspar I.M.; Genest J.; Gentile M.; Giammanco A.; Gokce C.; Greber-Platzer S.; Grigore L.; Groselj U.; Harada-Shiba M.; Hartgers M.L.; Hegele R.A.; Horak P.; Hori M.; Hudgins L.C.; Hussein O.; Iannuzzo G.; Ilhan O.; Iughetti L.; Kayikcioglu M.; Kaynar L.G.; Kennedy B.A.; Khovidhunkit W.; Kolovou G.; Kose M.; Kuku I.; Kurtoglu E.; Lalic K.S.; Le H.-A.; Le T.-T.; Leitersdorf E.; Liberopoulos E.; Lyons A.R.M.; Madriz R.; Mandraffino G.; Mäser M.; Mehta R.; Mitchenko O.; Mombelli G.; Montalcini T.; Morace C.; Moubarak E.M.; Muntoni S.; Naguib T.A.; Nascimbeni F.; Nawawi H.; Nemer G.; Nguyen M.-N.T.; Notargiacomo S.; Okutan H.; Ozcebe O.I.; Pang J.; Passaro A.; Pavanello C.; Pecchioli L.; Pecchioli V.; Pederiva C.; Pekkolay Z.; Pellegatta F.; Piro S.; Pirro M.; Pisciotta L.; Pujia A.; Ray K.K.; Reda A.; Reijman M.D.; Reiner Ž.; Rhadi S.H.; Rizzi L.; Romandini A.; Ruel I.; Rymen D.; Sadiq F.; Sag S.; Salcioglu O.Z.; Santos R.D.; Sanz J.M.; Sarzani R.; Sbrana F.; Schurr D.; Scicali R.; Setia N.; Shaghee F.K.; Shek A.; Sherman M.H.; Soska V.; Stevens C.A.T.; Stroes E.S.G.; Stulnig T.M.; Suppressa P.; Susekov A.V.; Tarugi P.; Temizhan A.; Tichy L.; Trenti C.; Urbanek R.; Vallejo-Vaz A.J.; Vaverkova H.; Verma I.C.; Vrablik M.; Wang L.; Watts G.F.; Werba J.P.; Wiegman A.; Witters P.; Yenercag M.; Yilmaz M.; Yasar H.Y.; Zambon A.; Zambon S.; Zemek S.; Zenti M.G.; Zlatohlavek L.; Zuurbier L.
Format: Article
Language:English
Published: American Medical Association 2024
Online Access:https://www.scopus.com/inward/record.uri?eid=2-s2.0-85185923456&doi=10.1001%2fjamacardio.2023.5597&partnerID=40&md5=b510586029e75b62cb1be8406067d61b
id 2-s2.0-85185923456
spelling 2-s2.0-85185923456
Mulder J.W.C.M.; Tromp T.R.; Al-Khnifsawi M.; Blom D.J.; Chlebus K.; Cuchel M.; D'Erasmo L.; Gallo A.; Hovingh G.K.; Kim N.T.; Long J.; Raal F.J.; Schonck W.A.M.; Soran H.; Truong T.-H.; Boersma E.; Roeters van Lennep J.E.; Alareedh M.D.; Alieva R.; Allevi M.; Altunkeser B.B.; Al-Waili K.; Al-Zamili A.F.; Arca M.; Atzori L.; Averna M.; Ayesh M.H.; Azar S.T.; Banderali G.; Baratta F.; Bartuli A.; Béliard S.; Bianconi V.; Bini S.; Thani K.B.; Bitar F.F.; Blaha V.; Bonomo K.; Bourbon M.; Branchi A.; Brothers J.A.; Bruckert E.; Brunham L.R.; Bruzzi P.; Bucci M.; Buonuomo P.S.; Calabrò P.; Calandra S.; Carubbi F.; Cassiman D.; Casula M.; Catapano A.L.; Cavalot F.; Cefalù A.B.; Cesaro A.; Ceska R.; Charng M.-J.; Cipollone F.; Cohen H.; D'Addato S.; Dal Pino B.; Dann E.J.; Defesche J.C.; Del Ben M.; Demircioglu S.; Descamps O.S.; Di Costanzo A.; Di Taranto M.D.; Do D.-L.; Durst R.; Dvorakova J.; Ebenbichler C.F.; Elis A.; Emil S.; Ezhov M.V.; Fahed A.C.; Fasano T.; Ferri C.; Fogacci F.; Formisano E.; Fortunato G.; Francis G.A.; Freiberger T.; Galimberti F.; Gaspar I.M.; Genest J.; Gentile M.; Giammanco A.; Gokce C.; Greber-Platzer S.; Grigore L.; Groselj U.; Harada-Shiba M.; Hartgers M.L.; Hegele R.A.; Horak P.; Hori M.; Hudgins L.C.; Hussein O.; Iannuzzo G.; Ilhan O.; Iughetti L.; Kayikcioglu M.; Kaynar L.G.; Kennedy B.A.; Khovidhunkit W.; Kolovou G.; Kose M.; Kuku I.; Kurtoglu E.; Lalic K.S.; Le H.-A.; Le T.-T.; Leitersdorf E.; Liberopoulos E.; Lyons A.R.M.; Madriz R.; Mandraffino G.; Mäser M.; Mehta R.; Mitchenko O.; Mombelli G.; Montalcini T.; Morace C.; Moubarak E.M.; Muntoni S.; Naguib T.A.; Nascimbeni F.; Nawawi H.; Nemer G.; Nguyen M.-N.T.; Notargiacomo S.; Okutan H.; Ozcebe O.I.; Pang J.; Passaro A.; Pavanello C.; Pecchioli L.; Pecchioli V.; Pederiva C.; Pekkolay Z.; Pellegatta F.; Piro S.; Pirro M.; Pisciotta L.; Pujia A.; Ray K.K.; Reda A.; Reijman M.D.; Reiner Ž.; Rhadi S.H.; Rizzi L.; Romandini A.; Ruel I.; Rymen D.; Sadiq F.; Sag S.; Salcioglu O.Z.; Santos R.D.; Sanz J.M.; Sarzani R.; Sbrana F.; Schurr D.; Scicali R.; Setia N.; Shaghee F.K.; Shek A.; Sherman M.H.; Soska V.; Stevens C.A.T.; Stroes E.S.G.; Stulnig T.M.; Suppressa P.; Susekov A.V.; Tarugi P.; Temizhan A.; Tichy L.; Trenti C.; Urbanek R.; Vallejo-Vaz A.J.; Vaverkova H.; Verma I.C.; Vrablik M.; Wang L.; Watts G.F.; Werba J.P.; Wiegman A.; Witters P.; Yenercag M.; Yilmaz M.; Yasar H.Y.; Zambon A.; Zambon S.; Zemek S.; Zenti M.G.; Zlatohlavek L.; Zuurbier L.
Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia
2024
JAMA Cardiology


10.1001/jamacardio.2023.5597
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85185923456&doi=10.1001%2fjamacardio.2023.5597&partnerID=40&md5=b510586029e75b62cb1be8406067d61b
IMPORTANCE Homozygous familial hypercholesterolemia (HoFH) is a rare genetic condition characterized by extremely increased low-density lipoprotein (LDL) cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Heterozygous familial hypercholesterolemia (HeFH) is more common than HoFH, and women with HeFH are diagnosed later and undertreated compared to men; it is unknown whether these sex differences also apply to HoFH. OBJECTIVE To investigate sex differences in age at diagnosis, risk factors, lipid-lowering treatment, and ASCVD morbidity and mortality in patients with HoFH. DESIGN, SETTING, AND PARTICIPANTS Sex-specific analyses for this retrospective cohort study were performed using data from the HoFH International Clinical Collaborators (HICC) registry, the largest global dataset of patients with HoFH, spanning 88 institutions across 38 countries. Patients with HoFH who were alive during or after 2010 were eligible for inclusion. Data entry occurred between February 2016 and December 2020. Data were analyzed from June 2022 to June 2023. MAIN OUTCOMES AND MEASURES Comparison betweenwomen and men with HoFH regarding age at diagnosis, presence of risk factors, lipid-lowering treatment, prevalence, and onset and incidence of ASCVD morbidity (myocardial infarction [MI], aortic stenosis, and combined ASCVD outcomes) and mortality. RESULTS Data from 389 women and 362 men with HoFH from 38 countries were included. Women and men had similar age at diagnosis (median [IQR], 13 [6-26] years vs 11 [5-27] years, respectively), untreated LDL cholesterol levels (mean [SD], 579 [203] vs 596 [186]mg/dL, respectively), and cardiovascular risk factor prevalence, except smoking (38 of 266 women [14.3%] vs 59 of 217 men [27.2%], respectively). Prevalence of MI was lower in women (31 of 389 [8.0%]) than men (59 of 362 [16.3%]), but age at first MI was similar (mean [SD], 39 [13] years in women vs 38 [13] years in men). Treated LDL cholesterol levels and lipid-lowering therapy were similar in both sexes, in particular statins (248 of 276 women [89.9%] vs 235 of 258 men [91.1%]) and lipoprotein apheresis (115 of 317 women [36.3%] vs 118 of 304 men [38.8%]). Sixteen years after HoFH diagnosis, women had statistically significant lower cumulative incidence of MI (5.0% in women vs 13.7%in men; subdistribution hazard ratio [SHR], 0.37; 95%CI, 0.21-0.66) and nonsignificantly lower all-cause mortality (3.0% in women vs 4.1% in men; HR, 0.76; 95%CI, 0.40-1.45) and cardiovascular mortality (2.6% in women vs 4.1% in men; SHR, 0.87; 95%CI, 0.44-1.75). CONCLUSIONS AND RELEVANCE In this cohort study of individuals with known HoFH, MI was higher in men compared with women yet age at diagnosis and at first ASCVD event were similar. These findings suggest that early diagnosis and treatment are important in attenuating the excessive cardiovascular risk in both sexes. © 2024 American Medical Association. All rights reserved.
American Medical Association
23806583
English
Article
author Mulder J.W.C.M.; Tromp T.R.; Al-Khnifsawi M.; Blom D.J.; Chlebus K.; Cuchel M.; D'Erasmo L.; Gallo A.; Hovingh G.K.; Kim N.T.; Long J.; Raal F.J.; Schonck W.A.M.; Soran H.; Truong T.-H.; Boersma E.; Roeters van Lennep J.E.; Alareedh M.D.; Alieva R.; Allevi M.; Altunkeser B.B.; Al-Waili K.; Al-Zamili A.F.; Arca M.; Atzori L.; Averna M.; Ayesh M.H.; Azar S.T.; Banderali G.; Baratta F.; Bartuli A.; Béliard S.; Bianconi V.; Bini S.; Thani K.B.; Bitar F.F.; Blaha V.; Bonomo K.; Bourbon M.; Branchi A.; Brothers J.A.; Bruckert E.; Brunham L.R.; Bruzzi P.; Bucci M.; Buonuomo P.S.; Calabrò P.; Calandra S.; Carubbi F.; Cassiman D.; Casula M.; Catapano A.L.; Cavalot F.; Cefalù A.B.; Cesaro A.; Ceska R.; Charng M.-J.; Cipollone F.; Cohen H.; D'Addato S.; Dal Pino B.; Dann E.J.; Defesche J.C.; Del Ben M.; Demircioglu S.; Descamps O.S.; Di Costanzo A.; Di Taranto M.D.; Do D.-L.; Durst R.; Dvorakova J.; Ebenbichler C.F.; Elis A.; Emil S.; Ezhov M.V.; Fahed A.C.; Fasano T.; Ferri C.; Fogacci F.; Formisano E.; Fortunato G.; Francis G.A.; Freiberger T.; Galimberti F.; Gaspar I.M.; Genest J.; Gentile M.; Giammanco A.; Gokce C.; Greber-Platzer S.; Grigore L.; Groselj U.; Harada-Shiba M.; Hartgers M.L.; Hegele R.A.; Horak P.; Hori M.; Hudgins L.C.; Hussein O.; Iannuzzo G.; Ilhan O.; Iughetti L.; Kayikcioglu M.; Kaynar L.G.; Kennedy B.A.; Khovidhunkit W.; Kolovou G.; Kose M.; Kuku I.; Kurtoglu E.; Lalic K.S.; Le H.-A.; Le T.-T.; Leitersdorf E.; Liberopoulos E.; Lyons A.R.M.; Madriz R.; Mandraffino G.; Mäser M.; Mehta R.; Mitchenko O.; Mombelli G.; Montalcini T.; Morace C.; Moubarak E.M.; Muntoni S.; Naguib T.A.; Nascimbeni F.; Nawawi H.; Nemer G.; Nguyen M.-N.T.; Notargiacomo S.; Okutan H.; Ozcebe O.I.; Pang J.; Passaro A.; Pavanello C.; Pecchioli L.; Pecchioli V.; Pederiva C.; Pekkolay Z.; Pellegatta F.; Piro S.; Pirro M.; Pisciotta L.; Pujia A.; Ray K.K.; Reda A.; Reijman M.D.; Reiner Ž.; Rhadi S.H.; Rizzi L.; Romandini A.; Ruel I.; Rymen D.; Sadiq F.; Sag S.; Salcioglu O.Z.; Santos R.D.; Sanz J.M.; Sarzani R.; Sbrana F.; Schurr D.; Scicali R.; Setia N.; Shaghee F.K.; Shek A.; Sherman M.H.; Soska V.; Stevens C.A.T.; Stroes E.S.G.; Stulnig T.M.; Suppressa P.; Susekov A.V.; Tarugi P.; Temizhan A.; Tichy L.; Trenti C.; Urbanek R.; Vallejo-Vaz A.J.; Vaverkova H.; Verma I.C.; Vrablik M.; Wang L.; Watts G.F.; Werba J.P.; Wiegman A.; Witters P.; Yenercag M.; Yilmaz M.; Yasar H.Y.; Zambon A.; Zambon S.; Zemek S.; Zenti M.G.; Zlatohlavek L.; Zuurbier L.
spellingShingle Mulder J.W.C.M.; Tromp T.R.; Al-Khnifsawi M.; Blom D.J.; Chlebus K.; Cuchel M.; D'Erasmo L.; Gallo A.; Hovingh G.K.; Kim N.T.; Long J.; Raal F.J.; Schonck W.A.M.; Soran H.; Truong T.-H.; Boersma E.; Roeters van Lennep J.E.; Alareedh M.D.; Alieva R.; Allevi M.; Altunkeser B.B.; Al-Waili K.; Al-Zamili A.F.; Arca M.; Atzori L.; Averna M.; Ayesh M.H.; Azar S.T.; Banderali G.; Baratta F.; Bartuli A.; Béliard S.; Bianconi V.; Bini S.; Thani K.B.; Bitar F.F.; Blaha V.; Bonomo K.; Bourbon M.; Branchi A.; Brothers J.A.; Bruckert E.; Brunham L.R.; Bruzzi P.; Bucci M.; Buonuomo P.S.; Calabrò P.; Calandra S.; Carubbi F.; Cassiman D.; Casula M.; Catapano A.L.; Cavalot F.; Cefalù A.B.; Cesaro A.; Ceska R.; Charng M.-J.; Cipollone F.; Cohen H.; D'Addato S.; Dal Pino B.; Dann E.J.; Defesche J.C.; Del Ben M.; Demircioglu S.; Descamps O.S.; Di Costanzo A.; Di Taranto M.D.; Do D.-L.; Durst R.; Dvorakova J.; Ebenbichler C.F.; Elis A.; Emil S.; Ezhov M.V.; Fahed A.C.; Fasano T.; Ferri C.; Fogacci F.; Formisano E.; Fortunato G.; Francis G.A.; Freiberger T.; Galimberti F.; Gaspar I.M.; Genest J.; Gentile M.; Giammanco A.; Gokce C.; Greber-Platzer S.; Grigore L.; Groselj U.; Harada-Shiba M.; Hartgers M.L.; Hegele R.A.; Horak P.; Hori M.; Hudgins L.C.; Hussein O.; Iannuzzo G.; Ilhan O.; Iughetti L.; Kayikcioglu M.; Kaynar L.G.; Kennedy B.A.; Khovidhunkit W.; Kolovou G.; Kose M.; Kuku I.; Kurtoglu E.; Lalic K.S.; Le H.-A.; Le T.-T.; Leitersdorf E.; Liberopoulos E.; Lyons A.R.M.; Madriz R.; Mandraffino G.; Mäser M.; Mehta R.; Mitchenko O.; Mombelli G.; Montalcini T.; Morace C.; Moubarak E.M.; Muntoni S.; Naguib T.A.; Nascimbeni F.; Nawawi H.; Nemer G.; Nguyen M.-N.T.; Notargiacomo S.; Okutan H.; Ozcebe O.I.; Pang J.; Passaro A.; Pavanello C.; Pecchioli L.; Pecchioli V.; Pederiva C.; Pekkolay Z.; Pellegatta F.; Piro S.; Pirro M.; Pisciotta L.; Pujia A.; Ray K.K.; Reda A.; Reijman M.D.; Reiner Ž.; Rhadi S.H.; Rizzi L.; Romandini A.; Ruel I.; Rymen D.; Sadiq F.; Sag S.; Salcioglu O.Z.; Santos R.D.; Sanz J.M.; Sarzani R.; Sbrana F.; Schurr D.; Scicali R.; Setia N.; Shaghee F.K.; Shek A.; Sherman M.H.; Soska V.; Stevens C.A.T.; Stroes E.S.G.; Stulnig T.M.; Suppressa P.; Susekov A.V.; Tarugi P.; Temizhan A.; Tichy L.; Trenti C.; Urbanek R.; Vallejo-Vaz A.J.; Vaverkova H.; Verma I.C.; Vrablik M.; Wang L.; Watts G.F.; Werba J.P.; Wiegman A.; Witters P.; Yenercag M.; Yilmaz M.; Yasar H.Y.; Zambon A.; Zambon S.; Zemek S.; Zenti M.G.; Zlatohlavek L.; Zuurbier L.
Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia
author_facet Mulder J.W.C.M.; Tromp T.R.; Al-Khnifsawi M.; Blom D.J.; Chlebus K.; Cuchel M.; D'Erasmo L.; Gallo A.; Hovingh G.K.; Kim N.T.; Long J.; Raal F.J.; Schonck W.A.M.; Soran H.; Truong T.-H.; Boersma E.; Roeters van Lennep J.E.; Alareedh M.D.; Alieva R.; Allevi M.; Altunkeser B.B.; Al-Waili K.; Al-Zamili A.F.; Arca M.; Atzori L.; Averna M.; Ayesh M.H.; Azar S.T.; Banderali G.; Baratta F.; Bartuli A.; Béliard S.; Bianconi V.; Bini S.; Thani K.B.; Bitar F.F.; Blaha V.; Bonomo K.; Bourbon M.; Branchi A.; Brothers J.A.; Bruckert E.; Brunham L.R.; Bruzzi P.; Bucci M.; Buonuomo P.S.; Calabrò P.; Calandra S.; Carubbi F.; Cassiman D.; Casula M.; Catapano A.L.; Cavalot F.; Cefalù A.B.; Cesaro A.; Ceska R.; Charng M.-J.; Cipollone F.; Cohen H.; D'Addato S.; Dal Pino B.; Dann E.J.; Defesche J.C.; Del Ben M.; Demircioglu S.; Descamps O.S.; Di Costanzo A.; Di Taranto M.D.; Do D.-L.; Durst R.; Dvorakova J.; Ebenbichler C.F.; Elis A.; Emil S.; Ezhov M.V.; Fahed A.C.; Fasano T.; Ferri C.; Fogacci F.; Formisano E.; Fortunato G.; Francis G.A.; Freiberger T.; Galimberti F.; Gaspar I.M.; Genest J.; Gentile M.; Giammanco A.; Gokce C.; Greber-Platzer S.; Grigore L.; Groselj U.; Harada-Shiba M.; Hartgers M.L.; Hegele R.A.; Horak P.; Hori M.; Hudgins L.C.; Hussein O.; Iannuzzo G.; Ilhan O.; Iughetti L.; Kayikcioglu M.; Kaynar L.G.; Kennedy B.A.; Khovidhunkit W.; Kolovou G.; Kose M.; Kuku I.; Kurtoglu E.; Lalic K.S.; Le H.-A.; Le T.-T.; Leitersdorf E.; Liberopoulos E.; Lyons A.R.M.; Madriz R.; Mandraffino G.; Mäser M.; Mehta R.; Mitchenko O.; Mombelli G.; Montalcini T.; Morace C.; Moubarak E.M.; Muntoni S.; Naguib T.A.; Nascimbeni F.; Nawawi H.; Nemer G.; Nguyen M.-N.T.; Notargiacomo S.; Okutan H.; Ozcebe O.I.; Pang J.; Passaro A.; Pavanello C.; Pecchioli L.; Pecchioli V.; Pederiva C.; Pekkolay Z.; Pellegatta F.; Piro S.; Pirro M.; Pisciotta L.; Pujia A.; Ray K.K.; Reda A.; Reijman M.D.; Reiner Ž.; Rhadi S.H.; Rizzi L.; Romandini A.; Ruel I.; Rymen D.; Sadiq F.; Sag S.; Salcioglu O.Z.; Santos R.D.; Sanz J.M.; Sarzani R.; Sbrana F.; Schurr D.; Scicali R.; Setia N.; Shaghee F.K.; Shek A.; Sherman M.H.; Soska V.; Stevens C.A.T.; Stroes E.S.G.; Stulnig T.M.; Suppressa P.; Susekov A.V.; Tarugi P.; Temizhan A.; Tichy L.; Trenti C.; Urbanek R.; Vallejo-Vaz A.J.; Vaverkova H.; Verma I.C.; Vrablik M.; Wang L.; Watts G.F.; Werba J.P.; Wiegman A.; Witters P.; Yenercag M.; Yilmaz M.; Yasar H.Y.; Zambon A.; Zambon S.; Zemek S.; Zenti M.G.; Zlatohlavek L.; Zuurbier L.
author_sort Mulder J.W.C.M.; Tromp T.R.; Al-Khnifsawi M.; Blom D.J.; Chlebus K.; Cuchel M.; D'Erasmo L.; Gallo A.; Hovingh G.K.; Kim N.T.; Long J.; Raal F.J.; Schonck W.A.M.; Soran H.; Truong T.-H.; Boersma E.; Roeters van Lennep J.E.; Alareedh M.D.; Alieva R.; Allevi M.; Altunkeser B.B.; Al-Waili K.; Al-Zamili A.F.; Arca M.; Atzori L.; Averna M.; Ayesh M.H.; Azar S.T.; Banderali G.; Baratta F.; Bartuli A.; Béliard S.; Bianconi V.; Bini S.; Thani K.B.; Bitar F.F.; Blaha V.; Bonomo K.; Bourbon M.; Branchi A.; Brothers J.A.; Bruckert E.; Brunham L.R.; Bruzzi P.; Bucci M.; Buonuomo P.S.; Calabrò P.; Calandra S.; Carubbi F.; Cassiman D.; Casula M.; Catapano A.L.; Cavalot F.; Cefalù A.B.; Cesaro A.; Ceska R.; Charng M.-J.; Cipollone F.; Cohen H.; D'Addato S.; Dal Pino B.; Dann E.J.; Defesche J.C.; Del Ben M.; Demircioglu S.; Descamps O.S.; Di Costanzo A.; Di Taranto M.D.; Do D.-L.; Durst R.; Dvorakova J.; Ebenbichler C.F.; Elis A.; Emil S.; Ezhov M.V.; Fahed A.C.; Fasano T.; Ferri C.; Fogacci F.; Formisano E.; Fortunato G.; Francis G.A.; Freiberger T.; Galimberti F.; Gaspar I.M.; Genest J.; Gentile M.; Giammanco A.; Gokce C.; Greber-Platzer S.; Grigore L.; Groselj U.; Harada-Shiba M.; Hartgers M.L.; Hegele R.A.; Horak P.; Hori M.; Hudgins L.C.; Hussein O.; Iannuzzo G.; Ilhan O.; Iughetti L.; Kayikcioglu M.; Kaynar L.G.; Kennedy B.A.; Khovidhunkit W.; Kolovou G.; Kose M.; Kuku I.; Kurtoglu E.; Lalic K.S.; Le H.-A.; Le T.-T.; Leitersdorf E.; Liberopoulos E.; Lyons A.R.M.; Madriz R.; Mandraffino G.; Mäser M.; Mehta R.; Mitchenko O.; Mombelli G.; Montalcini T.; Morace C.; Moubarak E.M.; Muntoni S.; Naguib T.A.; Nascimbeni F.; Nawawi H.; Nemer G.; Nguyen M.-N.T.; Notargiacomo S.; Okutan H.; Ozcebe O.I.; Pang J.; Passaro A.; Pavanello C.; Pecchioli L.; Pecchioli V.; Pederiva C.; Pekkolay Z.; Pellegatta F.; Piro S.; Pirro M.; Pisciotta L.; Pujia A.; Ray K.K.; Reda A.; Reijman M.D.; Reiner Ž.; Rhadi S.H.; Rizzi L.; Romandini A.; Ruel I.; Rymen D.; Sadiq F.; Sag S.; Salcioglu O.Z.; Santos R.D.; Sanz J.M.; Sarzani R.; Sbrana F.; Schurr D.; Scicali R.; Setia N.; Shaghee F.K.; Shek A.; Sherman M.H.; Soska V.; Stevens C.A.T.; Stroes E.S.G.; Stulnig T.M.; Suppressa P.; Susekov A.V.; Tarugi P.; Temizhan A.; Tichy L.; Trenti C.; Urbanek R.; Vallejo-Vaz A.J.; Vaverkova H.; Verma I.C.; Vrablik M.; Wang L.; Watts G.F.; Werba J.P.; Wiegman A.; Witters P.; Yenercag M.; Yilmaz M.; Yasar H.Y.; Zambon A.; Zambon S.; Zemek S.; Zenti M.G.; Zlatohlavek L.; Zuurbier L.
title Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia
title_short Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia
title_full Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia
title_fullStr Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia
title_full_unstemmed Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia
title_sort Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia
publishDate 2024
container_title JAMA Cardiology
container_volume
container_issue
doi_str_mv 10.1001/jamacardio.2023.5597
url https://www.scopus.com/inward/record.uri?eid=2-s2.0-85185923456&doi=10.1001%2fjamacardio.2023.5597&partnerID=40&md5=b510586029e75b62cb1be8406067d61b
description IMPORTANCE Homozygous familial hypercholesterolemia (HoFH) is a rare genetic condition characterized by extremely increased low-density lipoprotein (LDL) cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Heterozygous familial hypercholesterolemia (HeFH) is more common than HoFH, and women with HeFH are diagnosed later and undertreated compared to men; it is unknown whether these sex differences also apply to HoFH. OBJECTIVE To investigate sex differences in age at diagnosis, risk factors, lipid-lowering treatment, and ASCVD morbidity and mortality in patients with HoFH. DESIGN, SETTING, AND PARTICIPANTS Sex-specific analyses for this retrospective cohort study were performed using data from the HoFH International Clinical Collaborators (HICC) registry, the largest global dataset of patients with HoFH, spanning 88 institutions across 38 countries. Patients with HoFH who were alive during or after 2010 were eligible for inclusion. Data entry occurred between February 2016 and December 2020. Data were analyzed from June 2022 to June 2023. MAIN OUTCOMES AND MEASURES Comparison betweenwomen and men with HoFH regarding age at diagnosis, presence of risk factors, lipid-lowering treatment, prevalence, and onset and incidence of ASCVD morbidity (myocardial infarction [MI], aortic stenosis, and combined ASCVD outcomes) and mortality. RESULTS Data from 389 women and 362 men with HoFH from 38 countries were included. Women and men had similar age at diagnosis (median [IQR], 13 [6-26] years vs 11 [5-27] years, respectively), untreated LDL cholesterol levels (mean [SD], 579 [203] vs 596 [186]mg/dL, respectively), and cardiovascular risk factor prevalence, except smoking (38 of 266 women [14.3%] vs 59 of 217 men [27.2%], respectively). Prevalence of MI was lower in women (31 of 389 [8.0%]) than men (59 of 362 [16.3%]), but age at first MI was similar (mean [SD], 39 [13] years in women vs 38 [13] years in men). Treated LDL cholesterol levels and lipid-lowering therapy were similar in both sexes, in particular statins (248 of 276 women [89.9%] vs 235 of 258 men [91.1%]) and lipoprotein apheresis (115 of 317 women [36.3%] vs 118 of 304 men [38.8%]). Sixteen years after HoFH diagnosis, women had statistically significant lower cumulative incidence of MI (5.0% in women vs 13.7%in men; subdistribution hazard ratio [SHR], 0.37; 95%CI, 0.21-0.66) and nonsignificantly lower all-cause mortality (3.0% in women vs 4.1% in men; HR, 0.76; 95%CI, 0.40-1.45) and cardiovascular mortality (2.6% in women vs 4.1% in men; SHR, 0.87; 95%CI, 0.44-1.75). CONCLUSIONS AND RELEVANCE In this cohort study of individuals with known HoFH, MI was higher in men compared with women yet age at diagnosis and at first ASCVD event were similar. These findings suggest that early diagnosis and treatment are important in attenuating the excessive cardiovascular risk in both sexes. © 2024 American Medical Association. All rights reserved.
publisher American Medical Association
issn 23806583
language English
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