Detection of Familial Hypercholesterolemia through centralized analytical data. HF HUELVA DETECTA Program

Gutiérrez-Cortizo, Eva Nadiejda; Romero-Jiménez, Manuel Jesús; Rodríguez, María Elena Mansilla; Santos, María Angustias Díaz; Granado, Francisco Javier Caballero; Ruiz-Granados, Elena Sánchez; Sánchez-Ramos, José Luis; Mata, Pedro

doi:10.1016/j.endien.2021.11.017

Cited by 2 publications

(3 citation statements)

References 23 publications

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“…However, in this paper, patients with LDL-C > 190 mg/dl and a DLCN score ≥4 were included. Conversely, this rate of finding pathogenic variants is slightly lower than other series of a similar design published in Spain, which range from 53 to 68% ( Gutiérrez-Cortizo et al, 2021 ; Sabatel-Pérez et al, 2021 ) (see Table 2 ).…”

Section: Discussioncontrasting

confidence: 57%

“…Over the last decade, considerable interest has been shown in the identification of patients with FH by using analytical records from community laboratories ( Bell et al, 2014 ; Kirke et al, 2015 ; Mirzaee et al, 2019 ). There are limited data in Spain on the use and benefits of centralised analytical data screening in testing for FH ( Gutiérrez-Cortizo et al, 2021 ; Sabatel-Pérez et al, 2021 ).…”

Section: Introductionmentioning

confidence: 99%

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Implementation of a biochemical, clinical, and genetic screening programme for familial hypercholesterolemia in 26 centres in Spain: The ARIAN study

2022

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Background: Familial hypercholesterolemia (FH) is clearly underdiagnosed and undertreated. The aim of this present study is to assess the benefits of FH screening through a joint national program implemented between clinical laboratories and lipid units.Methods: All clinical laboratory tests from 1 January 2017 to 31 December 2018 were reviewed, and those with LDL cholesterol (LDL-C) levels >250 mg/dl were identified in subjects >18 years of age of both sexes. Once secondary causes had been ruled out, the treating physician was contacted and advised to refer the patient to an LU to perform the Dutch Lipid Clinic Network score and to request genetic testing if the score was ≥6 points. Next Generation Sequencing was used to analyse the promoter and coding DNA sequences of four genes associated with FH (LDLR, APOB, PCSK9, APOE) and two genes that have a clinical overlap with FH characteristics (LDLRAP1 and LIPA). A polygenic risk score based on 12 variants was also obtained.Results: Of the 3,827,513 patients analyzed in 26 centers, 6,765 had LDL-C levels >250 mg/dl. Having ruled out secondary causes and known cases of FH, 3,015 subjects were included, although only 1,205 treating physicians could be contacted. 635 patients were referred to an LU and genetic testing was requested for 153 of them. This resulted in a finding of sixty-seven pathogenic variants for FH, 66 in the LDLR gene and one in APOB. The polygenic risk score was found higher in those who had no pathogenic variant compared to those with a pathogenic variant.Conclusion: Despite its limitations, systematic collaboration between clinical laboratories and lipid units allows for the identification of large numbers of patients with a phenotypic or genetic diagnosis of FH, which will reduce their vascular risk. This activity should be part of the clinical routine.

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Section: Discussioncontrasting

confidence: 57%

Section: Introductionmentioning

confidence: 99%

Implementation of a biochemical, clinical, and genetic screening programme for familial hypercholesterolemia in 26 centres in Spain: The ARIAN study

2022

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“…In our opinion, having a population with a genetic diagnosis of FH instead of a diagnosis based on clinical criteria allows us to unequivocally select the population with FH, avoiding patient selection biases, mainly with polygenic hypercholesterolemia or combined FH. 5,6 In a recent study published by Gutiérrez et al 7 on the DETECTA HF-HUELVA Program (Detection of Familial Hypercholesterolemia in the Province of Huelva), where phenotypic diagnosis was compared with genetic diagnosis, we can observe that as the score in the DLCN (Dutch Lipid Clinic Network) classification decreases, the percentage appearance of mutation decreases and the number of patients with polygenic hypercholesterolemia increases. In the REFERCHOL registry, patients with DLCN criteria ≥8 were included, which classifies patients with certain FH; however, in the present study, 20% of patients were chosen with a DLCN score ≥6, selecting a more heterogeneous population.…”

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confidence: 97%

Letter by Romero-Jiménez et al Regarding Article, “Familial Hypercholesterolemia-Risk-Score: A New Score Predicting Cardiovascular Events and Cardiovascular Mortality in Familial Hypercholesterolemia”

Jiménez

Castaño

Mansilla

et al. 2021

ATVB

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We read with interest the article by Paquette et al 1 entitled "Familial Hypercholesterolemia-Risk-Score: a New Score Predicting Cardiovascular Events and Cardiovascular Mortality in Familial Hypercholesterolemia. " This publication highlights the need to identify groups of individuals at higher and lower risk of experiencing an atherosclerotic cardiovascular event (ASCVD) in the population with familial hypercholesterolemia (FH), which allows personalized medicine to be carried out with the different therapies available. In addition to highlighting the wisdom of this strategy, we would like to highlight some aspects that would improve its publication.As well described in the introduction, there is already a specific risk equation for population with FH, the SAFEHEART-RE (Spanish Familial Hypercholesterolemia Cohort Study) equation, published 4 years ago in Circulation. 2 It describes for the first time a prediction of ASCVD risk, which allows the identification of patients at different risk, with a Harrell C index of 0.85. Although there are other prediction models, these are mostly cross-sectional studies and not follow-up, as published in the meta-analysis by Hu et al. 3 Therefore, it would not be correct to say that the FH-Risk-Score equation is the first.To know the predictive power of the FH-Risk-Score equation, it would be necessary to know the CIs of Harrell C index, which are not shown in his article or in the Data Supplement, nor do they provide data from the analysis performed on the SAFEHEART-RE equation, for which they show only a score of 0.69.The data published on the SAFEHEART-RE equation to date are as follows: the SAFEHEART-RE Harrell C index for patients without an established diagnosis of ASCVD before enrollment in the registry was 0.81. The 10-year estimated median risk of the enrolled population was 7.17% (interquartile range, 2.93%-14.48%). 2

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Detection of Familial Hypercholesterolemia through centralized analytical data. HF HUELVA DETECTA Program

Cited by 2 publications

References 23 publications

Implementation of a biochemical, clinical, and genetic screening programme for familial hypercholesterolemia in 26 centres in Spain: The ARIAN study

Implementation of a biochemical, clinical, and genetic screening programme for familial hypercholesterolemia in 26 centres in Spain: The ARIAN study

Letter by Romero-Jiménez et al Regarding Article, “Familial Hypercholesterolemia-Risk-Score: A New Score Predicting Cardiovascular Events and Cardiovascular Mortality in Familial Hypercholesterolemia”

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