Cascade screening of familial hypercholesterolemia must go on

Galema-Boers, J.M.H.; Versmissen, Jorie; Lennep, Henk W. O. Roeters van; Dusault-Wijkstra, J.E.; Williams, Monique; Lennep, Jeanine E. Roeters van

doi:10.1016/j.atherosclerosis.2015.07.020

Cited by 30 publications

(12 citation statements)

References 14 publications

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“…Some studies with other populations have shown the importance of performing screenings to identify a family history of dyslipidemia in children. 23 , 24 , 25 It is known that familial hypercholesterolemia is a common genetic cause of premature coronary disease and is an autosomal dominant disorder present even in individuals with a healthy lifestyle. A diagnosis of familial hypercholesterolemia is based on phenotypic criteria, involving high serum concentrations of LDL-c, plus a family history of elevated LDL-c, premature coronary disease and/or genetic diagnoses.…”

Section: Discussionmentioning

confidence: 99%

O Histórico Familiar Está Associado À Presença De Dislipidemia Em Crianças Pré-Escolares

Filgueiras

Vieira

Ribeiro

et al. 2019

Rev. paul. pediatr.

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Objective: To evaluate the association between family history and the presence of dyslipidemia in children.Methods: A cross-sectional study with 257 children aged 4 to 7 years old from Viçosa, Minas Gerais, Southeast Brazil. Nutritional status and lipid profile (total cholesterol, cholesterol fractions, and triglyceride) assessments and an active search for a family history of dyslipidemia in parents were carried out. Pearson's chi-square test was used to identify associations, and Student's t-test was used to compare means. A Poisson regression analysis was performed to assess the independent association between family history and the presence of dyslipidemia in children.A significance level of 5% was adopted.Results: Children of parents with dyslipidemia had higher serum concentrations of total cholesterol and triglycerides. In a regression analysis after adjustments, the presence of dyslipidemia in the father or in the mother (OR: 2.43; 95%CI 1.12-5.27), as well as the presence of dyslipidemia in both the father and the mother (OR: 5.62; 95%CI 2.27-13.92) were associated with hypertriglyceridemia in children. Children of parents with dyslipidemia had a higher prevalence of elevated low-density lipoproteins (LDL-c) (OR:1.52; 95%CI 1.18-1.97).Conclusions: An investigation of the family history of dyslipidemia should be made as part of the protocol to verify the presence of hypertriglyceridemia and dyslipidemia in children.Keywords: Child; Parents; Dyslipidemia; Hypertriglyceridemia; Cardiovascular diseases.Objetivo: Avaliar a associação entre história familiar e presença de dislipidemias em crianças.Métodos: Estudo transversal com 257 crianças de 4 a 7 anos de idade do município de Viçosa, Minas Gerais. Foram realizadas avaliações do estado nutricional e do perfil lipídico (colesterol total e frações e triglicerídeos), além do registro de história de dislipidemia dos pais. Para análise estatística, foi utilizado o teste do qui-quadrado de Pearson para identificar associações e teste t de Student para comparação de médias. Foi realizada análise de regressão de Poisson para avaliar a associação independente entre história familiar e a presença de dislipidemia em crianças, sendo adotado o nível de significância estatística de 5%.Resultados: Crianças com pais dislipidêmicos apresentaram maiores concentrações séricas de colesterol total e triglicerídeos. Na análise de regressão após ajuste, a presença de dislipidemia no pai ou na mãe (RP: 2,43; IC95% 1,27) bem como a presença de dislipidemia no pai e na mãe (RP: 5,62; IC95% 2,92) estiveram associadas à hipertrigliceridemia nas crianças. Crianças com pais e mães dislipidêmicos apresentaram maior prevalência de lipoproteína de baixa densidade (LDL-c) elevada (RP: 1,52; IC95% 1,18-1,97). Conclusões:A investigação da história familiar de dislipidemia deve fazer parte de protocolos para verificar a presença de hipertrigliceridemia e dislipidemias na infância. Palavras INTRODUCTIONDyslipidemia occurs when lipoproteins are metabolically altered such that high serum con...

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Section: Discussionmentioning

confidence: 99%

O Histórico Familiar Está Associado À Presença De Dislipidemia Em Crianças Pré-Escolares

Filgueiras

Vieira

Ribeiro

et al. 2019

Rev. paul. pediatr.

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“…The Netherlands: Data was collected from all consecutive children with FH who visited the outpatient lipid clinics of the Erasmus MC or Sophia Children Hospital The Netherlands for the first time under 18 years old, between April 1993 and February 2018 and was entered in a database. The diagnosis of FH was based either on identification of a FH pathogenic variant in LDLR//APOB/PCSK9 or Dutch Lipid Clinic Network criteria with definite FH score ≥8 [25,27]. Children with homozygous FH were excluded.…”

Section: Country-specific Patient Identificationmentioning

confidence: 99%

“…In 2017 we obtained funding from the International Atherosclerosis Society (IAS) to collect similar data from seven other European countries, to establish an International Paediatric FH Register and to compare across Europe the characteristics at diagnosis, including the proportion with an identified mutation and the proportion of children with LDL-C < 4.0 mmol/l, and the age of initiation and lipid-lowering effect of statin treatment in the different countries. Although information on children in the UK [22], Portugal [24], The Netherlands [25] and Norway [26] cohorts has been published previously, the novelty of this present study is the analysis of the between-country similarities and differences in diagnostic and treatment strategies currently being used.…”

Section: Introductionmentioning

confidence: 99%

Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

et al. 2020

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“…There are currently no systematic efforts to apply cascade screening for Tier 1 genetic conditions among the general population in Europe apart from the Netherlands, which successfully implemented a cascade screening program for FH. The implementation of this pioneering public health program helped identify more than 28,000 asymptomatic cases [ 55 ] and provides proof-of-concept that cascade screening can be applied in other settings [ 56 ].…”

Section: Introductionmentioning

confidence: 99%

Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol

Katapodi¹,

Viassolo²,

Zufferey³

et al. 2017

JMIR Res Protoc

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BackgroundBreast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland, affecting more than 12,000 individuals annually. Hundreds of these patients are likely to carry germline pathogenic variants associated with hereditary breast ovarian cancer (HBOC) or Lynch syndrome (LS). Genetic services (counseling and testing) for hereditary susceptibility to cancer can prevent many cancer diagnoses and deaths through early identification and risk management.ObjectiveCascade screening is the systematic identification and testing of relatives of a known mutation carrier. It determines whether asymptomatic relatives also carry the known variant, needing management options to reduce future harmful outcomes. Specific aims of the CASCADE study are to (1) survey index cases with HBOC or LS from clinic-based genetic testing records and determine their current cancer status and surveillance practices, needs for coordination of medical care, psychosocial needs, patient-provider and patient-family communication, quality of life, and willingness to serve as advocates for cancer genetic services to blood relatives, (2) survey first- and second-degree relatives and first-cousins identified from pedigrees or family history records of HBOC and LS index cases and determine their current cancer and mutation status, cancer surveillance practices, needs for coordination of medical care, barriers and facilitators to using cancer genetic services, psychosocial needs, patient-provider and patient-family communication, quality of life, and willingness to participate in a study designed to increase use of cancer genetic services, and (3) explore the influence of patient-provider communication about genetic cancer risk on patient-family communication and the acceptability of a family-based communication, coping, and decision support intervention with focus group(s) of mutation carriers and relatives.MethodsCASCADE is a longitudinal study using surveys (online or paper/pencil) and focus groups, designed to elicit factors that enhance cascade genetic testing for HBOC and LS in Switzerland. Repeated observations are the optimal way for assessing these outcomes. Focus groups will examine barriers in patient-provider and patient-family communication, and the acceptability of a family-based communication, coping, and decision-support intervention. The survey will be developed in English, translated into three languages (German, French, and Italian), and back-translated into English, except for scales with validated versions in these languages.ResultsDescriptive analyses will include calculating means, standard deviations, frequencies, and percentages of variables and participant descriptors. Bivariate analyses (Pearson correlations, chi-square test for differences in proportions, and t test for differences in means) will assess associations between demographics and clinical characteristics. Regression analyses will incorporate generalized estimating equations for pairing index cases wit...

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Cascade screening of familial hypercholesterolemia must go on

Cited by 30 publications

References 14 publications

O Histórico Familiar Está Associado À Presença De Dislipidemia Em Crianças Pré-Escolares

O Histórico Familiar Está Associado À Presença De Dislipidemia Em Crianças Pré-Escolares

Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol

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