Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration

Vallejo‐Vaz, Antonio J.; Akram, Asif; Seshasai, Sreenivasa Rao Kondapally; Cole, Della; Watts, Gerald F.; Hovingh, G. Kees; Kastelein, John J.P.; Mata, Pedro; Raal, Frederick J.; Santos, Raul D.; Soran, Handrean; Freiberger, Tomáš; Abifadel, Marianne; Aguilar-Salinas, Carlos A.; Alnouri, Fahad; Alonso, Rodrigo; Al-Rasadi, Khalid; Banach, Maciej; Bogsrud, Martin P.; Bourbon, Mafalda; Bruckert, Éric; Car, Josip; Češka, Richard; Corral, Pablo; Descamps, Olivier; Dieplinger, Hans; T., Can; Durst, Ronen; Ezhov, M.; Fras, Zlatko; Gaiță, Dan; Gaspar, Isabel; Genest, Jaques; Harada‐Shiba, Mariko; Jiang, Lixin; Kayıkçıoğlu, Meral; Lam, Carolyn S.P.; Latkovskis, Gustavs; Laufs, Ulrich; Liberopoulos, Evangelos N.; Lin, Johnson; Lin, Nan; Maher, Vincent; Majano, Nelson; Marais, Adéle; März, Winfried; Mirrakhimov, Aibek E.; Miserez, André R.; Mitchenko, O.; Nawawi, Hapizah; Nilsson, Lennart; Nordestgaard, Børge G.; Paragh, György; Petrulionienė, Ž.; Pojskić, Belma; Reiner, Željko; Sahebkar, Amirhossein; Santos, Lourdes Ella G.; Schunkert, Heribert; Shehab, Abdullah; Slimane, Mohamed Naceur; Stoll, Mario; Su, Ta Chen; Сусеков, А. В.; Tilney, Myra; Tomlinson, Brian; Tselepis, Alexandros D.; Vohnout, Branislav; Widén, Elisabeth; Yamashita, Shizuya; Catapano, Alberico L.; Ray, Kausik K.

doi:10.1016/j.atherosclerosissup.2016.10.001

Cited by 98 publications

(62 citation statements)

References 37 publications

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“…However, the prevalence is higher in some populations, such as Lebanese, French Canadians, and South Afrikaners. In addition, it has been estimated that HeFH prevalence may reach 1:200 (Vallejo‐Vaz, Akram, Cole, Watts, & Ray, ; Nordestgaard et al, ; Vallejo‐Vaz et al, ). The prevalence of the Ho form has been estimated to range from 1:500.000 to 1:1 million (Nordestgaard et al, ).…”

Section: Introductionmentioning

confidence: 99%

Oxidative burden in familial hypercholesterolemia

Mollazadeh¹,

Carbone

Montecucco

et al. 2018

Journal Cellular Physiology

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Familial hypercholesterolemia (FH) is a genetic disorder characterized by high serum levels of low-density lipoprotein cholesterol (LDL-c). FH is characterized by accelerated development of atherosclerosis and represents the most frequent hereditary cause of premature coronary heart disease. Mutations of the LDL receptor gene are the genetic signature of FH, resulting in abnormal levels of circulating LDLs. Moreover, FH promotes the generation of reactive oxygen species (ROS) which is another key mechanism involved in atherosclerosis development and progression. The aim of this narrative review is to update the current knowledge on the pathophysiological mechanisms linking FH to ROS generation and their detrimental impact on atherosclerotic pathophysiology. With this purpose, we reviewed experimental and clinical data on the association between FH and OS and the functional role of OS as a promoter of inflammation and atherosclerosis. In this regard, oxidant species such as oxidized LDL, malondialdehyde, ROS, and isoprostanes emerged as leading mediators of the oxidative injury in FH. In conclusion, targeting oxidative stress may be a promising therapeutic strategy to reduce atherogenesis in patients with FH.

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Section: Introductionmentioning

confidence: 99%

Oxidative burden in familial hypercholesterolemia

Mollazadeh¹,

Carbone

Montecucco

et al. 2018

Journal Cellular Physiology

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“…2,9 Because familial hypercholesterolemia is inherited in an autosomal dominant fashion, most patients who have it are heterozygous, possessing 1 normal allele and 1 mutated allele. 10 The prevalence of heterozygous familial hypercholesterolemia is about 1 in 220, based on large genetic studies. 11 Homozygous familial hypercholesterolemia, in which the patient possesses 2 mutated alleles, is much less…”

Section: ■ Mutations In Ldlr and Other Genesmentioning

confidence: 99%

Familial hypercholesterolemia: Detect, treat, and ask about family

Shah

Ahmed

Tang³

2020

CCJM

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“…The HellAS-FH registry is part of the FH Studies Collaboration (FHSC) sponsored by the european Atherosclerosis Society (eAS). 24…”

Section: Hellas-fh Registry: Aimsmentioning

confidence: 99%

An insight into familial hypercholesterolemia in Greece: rationale and design of the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH)

Rizos

Athyros

Bilianou

et al. 2017

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Familial hypercholesterolemia (FH) is the most common metabolic genetic disorder. It is estimated that around 13 million people worldwide have FH. At the same time, only 25% of FH patients have been diagnosed. Moreover, these patients are often undertreated. The true prevalence of FH in Greece is unknown, but it is estimated that there are at least 40,000 FH patients nationwide pointing to a prevalence of 1:250. Patients with FH are at a high risk for cardiovascular events and death at an early age. Therefore, prompt detection of these patients is of pivotal importance in order to implement appropriate preventive measures at a young age. Patient registries are a powerful tool for recording and monitoring a disease and promoting clinical practices, thus contributing to improved outcomes and reduction of healthcare costs. National registries of FH patients have been a success in the Netherlands, Spain and Wales. As Greece did not have a national FH registry, the Hellenic Atherosclerosis Society has organized, established and funded the Hellenic Familial Hypercholesterolemia (HELLAS-FH) national registry in order to promote a better understanding of FH in our country.

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Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration

Cited by 98 publications

References 37 publications

Oxidative burden in familial hypercholesterolemia

Oxidative burden in familial hypercholesterolemia

Familial hypercholesterolemia: Detect, treat, and ask about family

An insight into familial hypercholesterolemia in Greece: rationale and design of the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH)

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