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Abrantes LB. 1, Alves AC. 1, 2, Medeiros A. M. 1,2, Correia S.3, Cruz A.4, Ana Cristina Ferreira.5 Lobarinhas G.6,Garcia P.7, Guerra A.8, Mansilha H.8, Martins E.9, Martins P.10, Salgado JM.11, Bourbon M. 1, 2 on behalf of investigators of Portuguese FH study

1 - Unidade de I&D, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal;
2 - BioISI—Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisbon, Lisbon, Portugal;
3 - Consulta Risco Cardiovascular Pediátrico, Hospital de Dia de Pediatria, Centro Hospitalar do Barreiro Montijo, EPE, Barreiro, Portugal;
4 - Serviço de Pediatria, Centro Hospitalar de Leiria Pombal, EPE – Hospital de Sto. André, Leiria, Portugal;
5 - Unidade de Doenças Metabólicas, Hospital D. Estefânia;
6 - Serviço de Pediatria, Hospital de Sta. Maria Maior, EPE, Lisboa, Portugal;
7 - Doenças Hereditárias do Metabolismo, Serviço Centro de Desenvolvimento do Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, E.P.E, Coimbra, Portugal;
8 - Serviço Pediatria Hospital de S. João, EPE, Porto, Portugal;
9 - Serviço Cardiologia, Hospital de S. João, EPE, Porto, Portugal;
10 - Serviço Cardiologia Pediátrica, Hospital Pediátrico Carmona da Mota, Coimbra, Portugal;
11 - Serviço de Pediatria, Hospital Senhora da Oliveira, Guimarães, Portugal

- 19º Congresso Nacional de Pediatria (Poster) - Estoril, 24 a 26 de Outubro de 2018

Introduction: Familial hypercholesterolemia (FH) is an autosomal dominant disorder presenting with high levels of plasma cholesterol and premature coronary heart disease (pCHD). The identification of FH at early age is essential for a timely diagnosis and management, in order to reduce the occurrence of pCHD in adult life. The aim of this study is to highlight the importance of the early diagnosis of FH in children.
Methods: This study was conducted with 294 children referred to the Portuguese FH Study, with a clinical diagnosis of FH under the age of 18 and that were no older than 21 years up to December 2017. A statistical analysis was performed to clinical and molecular data of these patients.
Results: The mean age at diagnosis was 10±3,8 and 26% of them had family history of pCHD with a mean age of event of 45±9,22 years. From the 294 children, 244 were referred as index cases and a total of 132 (54%) were molecularly identified with FH. Also, FH was confirmed in 47 relatives. Only 27% of index patients genetically identified with FH were under statins at referral. The mean values for total cholesterol (TC) and low-density lipoprotein levels (LDL-c) of index patients mutation positive not receiving statins (TC:272,41±48,58;LDL-c:201,28±45,86; mg/dl) are statistically higher than in children with no mutation found (p<<0,001) and although relatives identified with FH presented high levels of TC and LDL-c (TC:247,38±44,41;LDL-c:179,58±47,95; mg/dl), they are significant lower than index patients levels (p<0,05).
Conclusions: FH children present very high LDL-c levels and almost 1/3 of the parents have pCHD. Increasing awareness of FH and early diagnosis and treatment in childhood, are key factors for children to be free of the burden of CHD in adulthood.