FAMILIAL HYPERCHOLESTEROLAEMIA IN PEDIATRIC PRACTICE: CURRENT GUIDELINES & CLINICAL CASE

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

https://doi.org/10.35339/ic.3.2.70-74
PDF

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.

Copyright for articles published in the journal is regulated by the License Agreement for the use of a scientific article in the journal, which is concluded between the author of the article (Licensor) and Kharkov National Medical University (Licensee, publisher of the journal "Inter Collegas"). The licensor grants to the Licensee a non-exclusive non-exclusive license for the use of the article (a license that does not exclude the use of the article by the Licensor and the issuance of licenses to others for use of this article) on the terms and for the period specified in the contract. The licensor (the author of the article) grants the Licensee the right to reproduce the article (publication in the journal "Inter Collegas", publication, duplication, duplication or other reproduction of the article without limiting the circulation of copies, each copy of the article must contain the name of the Licensor; Of general information, including the publication of the article in full or in part on the Internet on the journal page, the right to use the metadata of the article (titles, full names of authors, annotations, bibliography eskih materials) through the dissemination and communication to the public, processing and systematization, as well as inclusion in various databases and in-formational system).

The licensor grants the licensee the right to transfer, store and process his personal data (full name, scientific degree, academic title, place of work and position, contact information of the authors) with the purpose of including them in the database in accordance with the Law of Ukraine No. 2297 - VI "on protection of personal data" from 01.06.2010.

Personal data and metadata of the article are provided for their storage and processing in various databases and information systems, including them in analytical and statistical reporting, creating sound relationships between the objects of works of science, literature and art with personal data, etc. on unlimited territory. The licensee has the right to transfer the specified data for processing and storage to third parties provided that such a fact is notified with the provision of information about the third party (name and address) to the Licensor.