Aortic stenosis and cardiovascular risk in patients with Homozygous Familial Hypercholesterolemia: a scoping review
DOI:
https://doi.org/10.33448/rsd-v11i14.36042Keywords:
Aortic stenosis; Homozygous Familial Hypercholesterolemia; Atherosclerosis; Heart disease risk factors.Abstract
Homozygous familial hypercholesterolemia (HoFH) is a hereditary, autosomal and biallelic condition capable of generating high plasma levels of low-density cholesterol (LDL-C). Thus, patients with this pathogenesis are at greater risk for the development of adverse cardiovascular events and for aortic stenosis (AS). The purpose of this text is to discuss the association between AS and cardiovascular risk in patients with HoHF. For this Scope Review, carried out through the PubMed and Science Direct platforms between 2020 and 2022, the descriptors chosen were ''Aortic stenosis'', ''Homozygous Familial Hypercholesterolemia'' and ''Atherosclerosis'', associated with the Boolean operator '' AND''. Inclusion criteria consisted of 1) clinical trials, controlled and randomized trials, reviews and meta-analyses; 2) studies on the association between AS and cardiovascular risk in HoFH 3) studies that evaluated the development of cardiovascular injury due to HoFH, as well as its management, follow-up and treatment and 4) articles in English, Spanish and Portuguese. Exclusion criteria consisted of inadequacies to the topic, case reports, studies with animals, in addition to texts outside the time limit. It was observed that supravalvular aortic stenosis (EASV) represented one of the main conditions associated with HoFH, whether or not associated with acute myocardial infarction, coronary heart disease and stroke. The best way to combine lipid-lowering therapies, as well as genetic screening and follow-up strategies, are still controversial topics, as is the choice of cardioprotective therapies.
References
Aljenedil, S., Alothman, L., Bélanger, A. M., Brown, L., Lahijanian, Z., Bergeron, J., ... & Genest, J. (2020). Lomitapide for treatment of homozygous familial hypercholesterolemia: the Québec experience. Atherosclerosis, 310, 54-63.
Bertolini, S., Calandra, S., Arca, M., Averna, M., Catapano, A. L., Tarugi, P., ... & Zenti, M. G. (2020). Homozygous familial hypercholesterolemia in Italy: clinical and molecular features. Atherosclerosis, 312, 72-78.
Bianconi, V., Banach, M., Pirro, M., & Panel, I. L. E. (2021). Why patients with familial hypercholesterolemia are at high cardiovascular risk? Beyond LDL-C levels. Trends Cardiovasc. Med., 31(4), 205-215.
Handelsman, Y., Jellinger, P. S., Guerin, C. K., Bloomgarden, Z. T., Brinton, E. A., Budoff, M. J., ... & Wyne, K. L. (2020). Consensus statement by the American Association of Clinical Endocrinologists and American College of Endocrinology on the management of dyslipidemia and prevention of cardiovascular disease algorithm–2020 executive summary. Endocr Pract, 26(10), 1196-1224.
Izar, M. C. D. O., Giraldez, V. Z. R., Bertolami, A., Santos Filho, R. D. D., Lottenberg, A. M., Assad, M. H. V., ... & Salgado Filho, W. (2021). Atualização da Diretriz Brasileira de Hipercolesterolemia Familiar–2021. Arq. Bras. Cardiol., 117, 782-844.
Júnior, E. T. B., Frtizen, G. V., Gomes, L. F., Moriya, T. T., & Rossi, R. C. (2021). O tratamento da hipercolesterolemia familiar com os inibidores de PCSK9: uma revisão integrativa. RSD, 10(15), e233101523018-e233101523018.
Kallapur, A., & Sallam, T. (2021). Pharmacotherapy in familial hypercholesterolemia-Current state and emerging paradigms. Trends Cardiovasc. Med.
Luirink, I. K., Hutten, B. A., Greber-Platzer, S., Kolovou, G. D., Dann, E. J., de Ferranti, S. D., ... & Groothoff, J. W. (2020). Practice of lipoprotein apheresis and short-term efficacy in children with homozygous familial hypercholesterolemia: data from an international registry. Atherosclerosis, 299, 24-31.
Marco-Benedí, V., Cenarro, A., Laclaustra, M., Larrea-Sebal, A., Jarauta, E., Lamiquiz-Moneo, I., ... & Civeira, F. (2022). Lipoprotein (a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation. Atherosclerosis, 349, 211-218.
Mulder, J. W., Kranenburg, L. W., Treling, W. J., Hovingh, G. K., Rutten, J. H., Busschbach, J. J., & van Lennep, J. E. R. (2022). Quality of life and coping in Dutch homozygous familial hypercholesterolemia patients: A qualitative study. Atherosclerosis, 348, 75-81.
Preiss, D., Tobert, J. A., Hovingh, G. K., & Reith, C. (2020). Lipid-modifying agents, from statins to PCSK9 inhibitors: JACC focus seminar. JACC, 75(16), 1945-1955.
Rosenson, R. S. (2021). Existing and emerging therapies for the treatment of familial hypercholesterolemia. J. Lipid Res., 62.
Tarasoutchi, F., Montera, M. W., Ramos, A. I. D. O., Sampaio, R. O., Rosa, V. E. E., Accorsi, T. A. D., ... & Saraiva, J. F. K. (2020). Atualização das Diretrizes Brasileiras de Valvopatias–2020. Arq. Bras. Cardiol., 115, 720-775.
Taylan, C., Driemeyer, J., Schmitt, C. P., Pape, L., Büscher, R., Galiano, M., ... & Klaus, G. (2020). Cardiovascular outcome of pediatric patients with bi-allelic (homozygous) familial hypercholesterolemia before and after initiation of multimodal lipid lowering therapy including lipoprotein apheresis. Arq. Bras. Cardiol., 136, 38-48.
Thompson, G. R. (2021). FH through the retrospectoscope. J. Lipid Res., 62.
Tromp, T. R., Hartgers, M. L., Hovingh, G. K., Vallejo-Vaz, A. J., Ray, K. K., Soran, H., ... & Temizhan, A. (2022). Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study. Lancet, 399(10326), 719-728.
Vaseghi, G., Javanmard, S. H., Heshmat-Ghahdarijani, K., Sarrafzadegan, N., & Amerizadeh, A. (2022). Comorbidities with Familial Hypercholesterolemia (FH): A Systematic Review. Curr Probl Cardiol., 101109.
Watts, G. F., Sullivan, D. R., Hare, D. L., Kostner, K. M., Horton, A. E., Bell, D. A., ... & Nicholls, S. J. (2021). Integrated guidance for enhancing the care of familial hypercholesterolaemia in Australia. Heart Lung Circ., 30(3), 324-349.
Wu, Y., Jiang, L., Zhang, H., Cheng, S., Wen, W., Xu, L., ... & Chen, J. (2021). Integrated analysis of microRNA and mRNA expression profiles in homozygous familial hypercholesterolemia patients and validation of atherosclerosis associated critical regulatory network. Genomics, 113(4), 2572-2582.
Zhang, R., Xie, J., Zhou, J., Xu, L., Pan, Y., Qu, Y., ... & Yang, Y. (2021). Supravalvular aortic stenosis and the risk of premature death among patients with homozygous familial hypercholesterolemia. J. Am. Coll. Cardiol., 145, 58-63.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2022 Trinnye Luizze Santos; Caroline Silva de Araujo Lima; Ricardo Ferreira Roman; Luis Tiago Batista Lima Cunha; Melque Emidio de Abrantes Gomes; Breno Gomes Carneiro de Freitas; Alyssa Castelo Branco Alencar Andrade; Bianca Volpe Foloni; Waldimiro Lacerda de Souza Neto; Silvana Romina Rocha Figueredo; Márcia Farsura de Oliveira
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
