Homozygous familial hypercholesterolaemia: insights from the
Global HICC Registry

J 2026

Homozygous familial hypercholesterolaemia: insights from the Global HICC Registry

SCHONCK, Willemijn A M; Janneke W C M MULDER; Marina CUCHEL; Laurens F REESKAMP; Fahad ALNOURI et al.

Základní údaje

Originální název

Homozygous familial hypercholesterolaemia: insights from the Global HICC Registry

Autoři

Vydání

European heart journal, Oxford, Oxford University Press, 2026, 0195-668X

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30201 Cardiac and Cardiovascular systems

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 35.600 v roce 2024

Označené pro přenos do RIV

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Homozygous familial hypercholesterolaemia; Atherosclerotic cardiovascular disease; HICC; LDL-C; Global disparities

Štítky

14110114

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 1. 6. 2026 10:00, Mgr. Tereza Miškechová

Anotace

V originále

Homozygous familial hypercholesterolaemia (HoFH) is a rare genetic disorder marked by extremely elevated low-density lipoprotein cholesterol (LDL-C) levels from birth and a very high risk of premature atherosclerotic cardiovascular disease (ASCVD). To address the global paucity of observational data, the HoFH International Clinical Collaborators (HICC) registry (NCT04815005) was established. To date, over 950 HoFH individuals from 45 countries have been included.The median age at diagnosis was 12 years (IQR: 5.5-27.0), and untreated LDL-C levels were markedly elevated [median 14.7 mmol/L (11.6-18.4)]. At diagnosis, 9% had ASCVD or (supra)aortic valve disease, and despite the widespread use of lipid-lowering therapy (LLT), only 4% achieved guideline-recommended LDL-C goals. Early initiation of lipoprotein-apheresis was associated with greater LDL-C reductions and delayed ASCVD onset.Cardiovascular burden remains substantial, with a median age at death of 37 years [20-50]. No sex differences were observed in age or clinical characteristics at diagnosis, treatment patterns, or timing of ASCVD, although the usual sex gap in cardiovascular disease onset was absent. Profound global disparities persist, including limited genetic screening, restricted access to LLT, and earlier onset of major adverse cardiovascular events in non-high-income countries. Reproductive care for women remains highly variable and understudied.The HICC aims to guide global stakeholders in improving clinical outcomes for individuals with HoFH through earlier diagnosis, equitable access to advanced therapies, and broader inclusion of underserved regions. By generating evidence from routine clinical care and patient-reported data, identifying gaps in care, and fostering international collaboration, HICC seeks to advance a more equitable and effective global approach to HoFH management.

Návaznosti

LX22NPO5104, projekt VaV

Název: Národní institut pro výzkum metabolických a kardiovaskulárních onemocnění (Akronym: CarDia)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Národní institut pro léčbu metabolických a kardiovaskulárních onemocnění, 5.1 EXCELES

Citovat

SCHONCK, Willemijn A M; Janneke W C M MULDER; Marina CUCHEL; Laurens F REESKAMP; Fahad ALNOURI; Iulia IATAN; Tomáš FREIBERGER; Meral KAYIKCIOGLU; Tycho R TROMP; M Doortje REIJMAN; Albert WIEGMAN; G Kees HOVINGH; Roeters van Lennep Jeanine E; Frederick J RAAL; Dirk J BLOM a Alberico L CATAPANO. Homozygous familial hypercholesterolaemia: insights from the Global HICC Registry. European heart journal. Oxford: Oxford University Press, 2026, 12 s. ISSN 0195-668X. Dostupné z: https://doi.org/10.1093/eurheartj/ehag357.

@article{2576321,
   author = {Schonck, Willemijn A M and Mulder, Janneke W C M and Cuchel, Marina and Reeskamp, Laurens F and Alnouri, Fahad and Iatan, Iulia and Freiberger, Tomáš and Kayikcioglu, Meral and Tromp, Tycho R and Reijman, M Doortje and Wiegman, Albert and Hovingh, G Kees and E, Roeters van Lennep Jeanine and Raal, Frederick J and Blom, Dirk J and Catapano, Alberico L},
   article_location = {Oxford},
   doi = {https://doi.org/10.1093/eurheartj/ehag357},
   keywords = {Homozygous familial hypercholesterolaemia; Atherosclerotic cardiovascular disease; HICC; LDL-C; Global disparities},
   language = {eng},
   issn = {0195-668X},
   journal = {European heart journal},
   title = {Homozygous familial hypercholesterolaemia: insights from the Global HICC Registry},
   url = {https://academic.oup.com/eurheartj/advance-article/doi/10.1093/eurheartj/ehag357/8686398},
   year = {2026}
}

TY  - JOUR
ID  - 2576321
AU  - Schonck, Willemijn A M - Mulder, Janneke W C M - Cuchel, Marina - Reeskamp, Laurens F - Alnouri, Fahad - Iatan, Iulia - Freiberger, Tomáš - Kayikcioglu, Meral - Tromp, Tycho R - Reijman, M Doortje - Wiegman, Albert - Hovingh, G Kees - E, Roeters van Lennep Jeanine - Raal, Frederick J - Blom, Dirk J - Catapano, Alberico L
PY  - 2026
TI  - Homozygous familial hypercholesterolaemia: insights from the Global HICC Registry
JF  - European heart journal
PB  - Oxford University Press
SN  - 0195668X
KW  - Homozygous familial hypercholesterolaemia
KW  - Atherosclerotic cardiovascular disease
KW  - HICC
KW  - LDL-C
KW  - Global disparities
UR  - https://academic.oup.com/eurheartj/advance-article/doi/10.1093/eurheartj/ehag357/8686398
N2  - Homozygous familial hypercholesterolaemia (HoFH) is a rare genetic disorder marked by extremely elevated low-density lipoprotein cholesterol (LDL-C) levels from birth and a very high risk of premature atherosclerotic cardiovascular disease (ASCVD). To address the global paucity of observational data, the HoFH International Clinical Collaborators (HICC) registry (NCT04815005) was established. To date, over 950 HoFH individuals from 45 countries have been included.The median age at diagnosis was 12 years (IQR: 5.5-27.0), and untreated LDL-C levels were markedly elevated [median 14.7 mmol/L (11.6-18.4)]. At diagnosis, 9% had ASCVD or (supra)aortic valve disease, and despite the widespread use of lipid-lowering therapy (LLT), only 4% achieved guideline-recommended LDL-C goals. Early initiation of lipoprotein-apheresis was associated with greater LDL-C reductions and delayed ASCVD onset.Cardiovascular burden remains substantial, with a median age at death of 37 years [20-50]. No sex differences were observed in age or clinical characteristics at diagnosis, treatment patterns, or timing of ASCVD, although the usual sex gap in cardiovascular disease onset was absent. Profound global disparities persist, including limited genetic screening, restricted access to LLT, and earlier onset of major adverse cardiovascular events in non-high-income countries. Reproductive care for women remains highly variable and understudied.The HICC aims to guide global stakeholders in improving clinical outcomes for individuals with HoFH through earlier diagnosis, equitable access to advanced therapies, and broader inclusion of underserved regions. By generating evidence from routine clinical care and patient-reported data, identifying gaps in care, and fostering international collaboration, HICC seeks to advance a more equitable and effective global approach to HoFH management.
ER  -

SCHONCK, Willemijn A M; Janneke W C M MULDER; Marina CUCHEL; Laurens F REESKAMP; Fahad ALNOURI; Iulia IATAN; Tomáš FREIBERGER; Meral KAYIKCIOGLU; Tycho R TROMP; M Doortje REIJMAN; Albert WIEGMAN; G Kees HOVINGH; Roeters van Lennep Jeanine E; Frederick J RAAL; Dirk J BLOM a Alberico L CATAPANO. Homozygous familial hypercholesterolaemia: insights from the Global HICC Registry. \textit{European heart journal}. Oxford: Oxford University Press, 2026, 12 s. ISSN~0195-668X. Dostupné z: https://doi.org/10.1093/eurheartj/ehag357.

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