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Publication
Colesterol Total, nem oito(enta) nem (duzentos e) oitenta: Parte 2 – Hipolipidemias primárias – alterações do metabolismo das lipoproteínas
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Advisor(s)
Abstract(s)
A dislipidemia é um distúrbio do perfil lipídico, seja por elevação ou diminuição de uma ou mais partículas lipídicas. O objetivo deste trabalho
é fazer uma revisão das causas moleculares de hipolipidemias e suas
consequências clínicas. São também apresentados casos com hipolipidemias raras já estudados, ou com estudo em curso no laboratório do INSA,
apresentando os dados clínicos e moleculares mais relevantes. O perfil
lipídico foi determinado por métodos automatizados para cada caso índex
e familiares e o estudo molecular dos genes envolvidos foi realizado por
amplificação por PCR e sequenciação de Sanger ou sequenciação de
nova geração (NGS). Foram referenciados ao laboratório do INSA 7 casos
índex, tendo sido possível até ao momento identificar a causa molecular
do fenótipo apresentado em 3 casos: 2 com hipobetalipoproteinemia
(1 homozigoto e 1 heterozigoto) e 1 caso índex com doença de Tangier; os
restantes encontram se ainda em estudo. Doentes com as dislipidemias
raras apresentadas têm um risco elevado de ter complicações cardiovasculares, neurológicas e/ou esteatose hepática e devem, por esta razão,
ser identificados o mais precocemente possível, de forma a minimizar ou
prevenir os efeitos nefastos destas condições.
Dyslipidemia is a disorder of the lipid metabolism profile, by either elevation or decrease of lipid particles. The objective of this work is to review the molecular causes of hypolipidemia and its clinical consequences. In this study, we present cases with rare hypolipidemias already studied or with a study in progress in laboratory of INSA, presenting the most relevant clinical and molecular data. The lipid profile was determined by automated methods for each index case and relatives and the molecular study of the genes involved was performed by PCR amplification and Sanger sequencing or next generation sequencing (NGS). Seven index cases were referred to laboratory of INSA and it was possible to identify the molecular cause of the phenotype presented by 3 cases: 2 with hypobetalipoproteinemia (1 homozygous and 1 heterozygous) and 1 with Tangier's disease; the remaining cases are still under study. Patients with the rare dyslipidemias presented have a high risk of having cardiovascular, neurological complications and/or hepatic steatosis and should therefore be identified as early as possible in order to minimize or prevent the harmful effects of these conditions.
Dyslipidemia is a disorder of the lipid metabolism profile, by either elevation or decrease of lipid particles. The objective of this work is to review the molecular causes of hypolipidemia and its clinical consequences. In this study, we present cases with rare hypolipidemias already studied or with a study in progress in laboratory of INSA, presenting the most relevant clinical and molecular data. The lipid profile was determined by automated methods for each index case and relatives and the molecular study of the genes involved was performed by PCR amplification and Sanger sequencing or next generation sequencing (NGS). Seven index cases were referred to laboratory of INSA and it was possible to identify the molecular cause of the phenotype presented by 3 cases: 2 with hypobetalipoproteinemia (1 homozygous and 1 heterozygous) and 1 with Tangier's disease; the remaining cases are still under study. Patients with the rare dyslipidemias presented have a high risk of having cardiovascular, neurological complications and/or hepatic steatosis and should therefore be identified as early as possible in order to minimize or prevent the harmful effects of these conditions.
Description
Keywords
Colesterol Hipolipidemias Primárias Metabolismo das Lipoproteínas Doenças Cardio e Cérebro-vasculares Saúde Pública Portugal
Pedagogical Context
Citation
Boletim Epidemiológico Observações. 2019 janeiro-abril;8(24):55-60
Publisher
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP