How to Cite
Abstract
Abstract
Tetyana Chaychenko
Familial hypercholesterolaemia in pediatric practice: current guidelines & clinical case
High risk for the population health due to hypercholesterolemia demands routine screening for the children from parents who are hyperlipidaemic and/or have acute cardiovascular events in family history. The current European Atherosclerosis Society guidelines concerning diagnosis and management of patients with familial hypercholesterolaemia is provided. Case of familial hypercholesterolaemia in 5 y.o. girl is presented. Phenotypic presentation of the disease together with lipids and genetic analysis are common for the problem diagnosed.
Key Words: children, familial hypercholesterolaemia, cardiovascular risk
Анотація
Тетяна Чайченко
Сімейна гіперхолестеролемія в педіатричній практиці: сучасні принципи і клінічний випадок
Високий ризик для здоров'я населення, обумовлений гіперхолестеролеією, вимагає рутинного скринінгу для дітей від батьків, що страждають на гіперліпідемію та/або мають гострі серцево-судинні події в анамнезі. Поточні рекомендації Європейського Суспільства Атеросклерозу щодо діагностики та лікування пацієнтів з сімейною гіперхолестеринемії представлені в публікації. Наведений клінічний випадок сімейної гіперхолестеролемії у 5 річної дівчинки, в якої фенотипічна презентація, ліпідограма та результати генетичного аналізу є типовими для діагностованого захворювання.
Ключові слова: діти, сімейна гіперхолестеринемія, серцево-судинний ризик
Аннотация
Татьяна Чайченко
Семейная гиперхолестеролемия в педиатрической практике: современные принципы и клинический случай
Высокий риск для здоровья населения, обусловленный гиперхолестеролемией, требует рутинного скрининга для детей от родителей, страдающих гиперлипидемией и/или имеющих острые сердечно-сосудистые события в анамнезе. Текущие рекомендации Европейского Общества Атеросклероза по диагностике и лечению пациентов с семейной гиперхолестеринемией представлены в публикации. Приведен клинический случай семейной гиперхолестеролемии у 5 летней девочки, у которой фенотипическая презентация, липидограмма и результаты генетического анализа являются типичными для диагностированного заболевания.
Ключевые слова: дети, семейная гиперхолестеринемия, сердечно-сосудистый риск
References
World Health Organization (2013). Global action
plan for the prevention and control of noncommunicable
diseases 2013-2020.
www.who.int/nmh/events/ncd_action_plan/en.
Grundy SM, Balady GJ, Criqui MH, et al. (1998).
Primary prevention of coronary heart disease: guidance
from Framingham: a statement for healthcare
professionals from the AHA Task Force on Risk Reduction.
Circulation. 97:1876-1887
National Heart, Lung, and Blood Institute. Expert
Panel on Integrated. Guidelines for Cardiovascular. Health
and Risk Reduction in. Children and Adolescents, 2012.
INTER COLLEGAS, VOL. 3, No. 2 (2016) ~ 74 ~
ISSN 2409-9988
European Atherosclerosis Society Consensus Panel.
(2013). Familial hypercholesterolaemia is underdiagnosed
and undertreated in the general population: guidance for
clinicians to prevent coronary heart disease: Consensus
Statement of the European Atherosclerosis Society. Eur
Heart J;34:3478–3490a.
Usifo E, Leigh SE, Whittall RA, Lench N, Taylor A,
Yeats C, Orengo CA, Martin AC, Celli J, Humphries SE.
(2012). Low-density lipoprotein receptor gene familial
hypercholesterolemia variant database: update and
pathological assessment. Ann Hum Genet;76:387–401.
Humphries SE, Norbury G, Leigh S, Hadfield SG,
Nair D. (2008). What is the clinical utility of DNA testing in
patients with familial hypercholesterolaemia? Curr Opin
Lipidol;19:362–368.
Van der Graaf A, Avis HJ, Kusters DM et al. (2011).
Molecular basis of autosomal dominant hyper-
?holesterolemia: assessment in a large cohort of
hypercholesterolemic children. Circulation 2011;123:1167–
Cuchel M, Bruckert E, Ginsberg HN, Raal FJ et al
(2014). European Atherosclerosis Society Consensus Panel
on Familial Hypercholesterolaemia. Homozygous familial
hypercholesterolaemia: new insights and guidance for
clinicians to improve detection and clinical management. A
position paper from the Consensus Panel on Familial
Hypercholesterolaemia of the European Atherosclerosis
Society. Eur Heart J;35:2146–2157.
Brown MS, Goldstein JL. (1986). A receptormediated
pathway for cholesterol homeostasis.
Science;232:34–47.
Stocker R, Keaney JF Jr. (2004). Role of oxidative
modifications in atherosclerosis. Physiol Rev;84:1381–1478.
Bellanger N, Orsoni A, Julia Zet al. (2011).
Atheroprotective reverse cholesterol transport pathway is
defective in familial hypercholesterolemia. Arterioscler
Thromb Vasc Biol;31:1675–1681.
McMahan CA, Gidding SS, Fayad ZA (2005). Risk
scores predict atherosclerotic lesions in young people. Arch
Intern Med;165:883–890.
Narverud I, Retterstøl K, Iversen PO et al. (2014).
Markers of atherosclerotic development in children with
familial hypercholesterolemia: a literature review.
Atherosclerosis; 235:299–309.
Ference BA, YooW, Alesh I et al. (2012) Effect of
long-term exposure to lower low-density lipoprotein
cholesterol beginning early in life on the risk of coronary
heart disease: a Mendelian randomization analysis. J Am
Coll Cardiol 2012;60:2631–2639.
European Atherosclerosis Society Consensus Panel
(2015). Familial hypercholesterolaemia in children and
adolescents: gaining decades of life by optimizing
detection and treatment. European Heart Journal;
doi:10.1093/eurheartj/ehv157.
"Inter Collegas" is an open access journal: all articles are published in open access without an embargo period, under the terms of the CC BY-NC-SA (Creative Commons Attribution ‒ Noncommercial ‒ Share Alike) license; the content is available to all readers without registration from the moment of its publication. Electronic copies of the archive of journals are placed in the repositories of the KhNMU and V.I. Vernadsky National Library of Ukraine.
Copyright Agreement
1. This Agreement on the transfer of rights to use the work from the Co-authors to the publisher (hereinafter the Agreement) is concluded between all the Co-authors of the work, represented by the Corresponding Author, and Kharkiv National Medical University (hereinafter the University), represented by an authorized representative of the Editorial Board of scientific journals (hereinafter the Editorial Board).
2. This Agreement is an accession agreement within the meaning of clause 1 of Article 634 of the Civil Code of Ukraine: that is, a contract, "the terms of which are established by one of the parties in forms or other standard forms, which can be concluded only by joining the other party to the proposed contract as a whole. The other party cannot offer its terms of the contract." The party that established the terms of this contract is the University.
3. If there is more than one author, the authors choose the Corresponding Author, who communicates with the Editorial Board on his own behalf and on behalf of all Co-authors regarding the publication of a written work of a scientific nature (article or review, hereinafter referred to as the Work).
4. The contract begins from the moment of submission of the manuscript of the Work by the Corresponding Author to the Editorial Board, which confirms the following:
4.1. all Co-authors of the Work are familiar with and agree with its content, at all stages of reviewing and editing the manuscript and the existence of the published Work;
4.2. all Co-authors of the Work are familiar with and agree to the terms of this Agreement.
5. The published Work is in electronic form in public access on the websites of the University and any websites and electronic databases in which the Work is posted by the University and is available to readers under the terms of the "Creative Commons" license (Attribution NonCommercial Sharealike 4.0 International)" or more free licenses "Creative Commons 4.0".
6. The Corresponding Author transfers, and the University receives, the non-exclusive property right to use the Work by placing the latter on the University's websites for the entire term of copyright. The University participates in the creation of the final version of the Work by reviewing and editing the manuscript of the article or review provided to the Editorial Board by the Corresponding Author, translating the Work into any languages. For the participation of the University in the finalization of the Work, the Co-authors agree to pay the invoice issued to them by the University, if such payment is provided by the University. The size and procedure of such payment are not the subject of this contract.
7. The University has the right to reproduce the Work or its parts in electronic and printed forms, to make copies, permanent archival storage of the Work, distribution of the Work on the Internet, repositories, scientometric databases, commercial networks, including for monetary compensation from third parties.
8. The co-authors guarantee that the manuscript of the Work does not use works whose copyright belongs to third parties.
9. The authors of the Work guarantee that at the time of submission of the manuscript of the Work to the Editorial Board, the property rights to the Work belong only to them, neither in whole nor in part have they been transferred to anyone (not alienated), they are not the subject of a lien, litigation or claims by third parties.
10. The Work may not be posted on the University's website if it violates a person's right to the privacy of his personal and family life, harms public order and health.
11. The work may be withdrawn by the Editorial Board from the University websites, libraries and electronic databases where it was placed by the Editorial Board, in cases of detection of violations of the ethics of the authors and researchers, without any compensation for the losses of the Co-authors. At the time of submission of the manuscript to the Editorial Board and all stages of its editing and review, the manuscript must not have already been published or submitted to other editorial offices.
12. The right transferred under this Agreement extends to the territory of Ukraine and foreign countries.
13. The rights of Co-authors include the requirement to indicate their names on all copies of the Work or during any public use or public mention of the Work; the requirement to preserve the integrity of the Work; legal opposition to any distortion or other encroachment on the Work, which may harm the honor and reputation of the Co-authors.
14. Co-authors have the right to control their personal non-property rights by familiarizing themselves with the text (content) and form of the Work before its publication on the University's website, when transferring it to a printing company for reproduction or when using the Work in other ways.
15. The Co-authors, in addition to the property rights not transferred under this Agreement and taking into account the non-exclusive nature of the rights transferred under this Agreement, retain the property rights to finalize the Work and to use certain parts of the Work in other works created by the Co-authors.
16. The Co-authors are obliged to notify the Editorial Board of all errors in the Work, discovered by them independently after the publication of the Work, and to take all measures to eliminate such errors as soon as possible.
17. The University undertakes to indicate the names of the Co-authors on all copies of the Work during any public use of the Work. The list of Co-authors may be shortened according to the rules for the formation of bibliographic descriptions determined by the University or third parties.
18. The University undertakes not to violate the integrity of the Work, to agree with the Corresponding Author on all changes made to the Work during processing and editing.
19. In case of violation of their obligations under this Agreement, its parties bear the responsibility defined by this Agreement and the current legislation of Ukraine. All disputes under the Agreement are resolved through negotiations, and if the negotiations do not resolve the dispute – in the courts of the city of Kharkiv.
20. The parties are not responsible for the violation of their obligations under this Agreement, if it occurred through no fault of theirs. The party is considered innocent if it proves that it has taken all measures dependent on it for the proper fulfillment of the obligation.
21. The Co-authors are responsible for the truthfulness of the facts, quotes, references to legislative and regulatory acts, other official documentation, the scientific validity of the Work, all types of responsibility to third parties who have claimed their rights to the Work. The co-authors reimburse the University for all costs caused by claims of third parties for infringement of copyright and other rights to the Work, as well as additional material costs related to the elimination of identified defects.