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Publication
Colesterol total, nem oito(enta) nem (duzentos e) oitenta: Parte 1 – Defeitos da biossíntese do colesterol
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Advisor(s)
Abstract(s)
O colesterol é um componente importante das membranas celulares e da
mielina, desempenhando também um papel essencial na embriogénese
e desenvolvimento. As hipercolesterolemias, patologias frequentes e bastante
conhecidas, têm vindo a ser alvo de atenção especial dado a sua
relação com o aumento do risco cardiovascular. Pelo contrário, poucos
estudos relatam as consequências por vezes dramáticas dos níveis baixos
de colesterol para as células. O reconhecimento destas situações depende
não só da clarificação dos limites inferiores da normalidade, dos níveis
de colesterol total e lipoproteínas na população em estudo, mas também
da identificação dos fenótipos (clínico e bioquímico) associados a concentrações
muito baixas dos referidos parâmetros analíticos. Este artigo, é o
primeiro de uma série de três, dedicados à classificação e diagnóstico de
hipolipidemias, elaborados com o objetivo de favorecer o reconhecimento
e diagnóstico destas doenças, e nele serão abordadas primariamente as
patologias polimalformativas devidas a erros hereditários da biossíntese
do colesterol; a segunda parte será dedicada às formas benignas e às hipolipidemias
patológicas causadas por alterações do metabolismo das
lipoproteínas e outras; finalmente na terceira parte serão abordadas as
formas secundárias de hipolipidemia.
Cholesterol is an impor tant structural component of cellular membranes and myelin, and it was found to play an essential role on embr yogenesis and development. Special attention has been focused on hypercholesterolemia and its relationship with increased cardiovascular risk, and only a few studies repor ted the dramatic consequences of low cholesterol levels for cells. The diagnosis of such situations depends on the easy recognition of the normal low limits of total cholesterol and lipoproteins levels as well as on the identification of clinical and biochemical phenotypes associated with ver y low concentrations of cholesterol and lipoproteins in serum. This paper is the first one of a series of three, whose objective is to contribute to the classification and diagnosis of hypolipidemias and it will be primarily addressed to human malformation syndromes due to inborn errors of cholesterol biosynthesis pathway; the second par t will be concerned to benign hypolipidemias, as well as to the pathological forms caused by alterations of lipoprotein metabolism; finally, secondar y forms of hypolipidemia will be repor ted in the third par t.
Cholesterol is an impor tant structural component of cellular membranes and myelin, and it was found to play an essential role on embr yogenesis and development. Special attention has been focused on hypercholesterolemia and its relationship with increased cardiovascular risk, and only a few studies repor ted the dramatic consequences of low cholesterol levels for cells. The diagnosis of such situations depends on the easy recognition of the normal low limits of total cholesterol and lipoproteins levels as well as on the identification of clinical and biochemical phenotypes associated with ver y low concentrations of cholesterol and lipoproteins in serum. This paper is the first one of a series of three, whose objective is to contribute to the classification and diagnosis of hypolipidemias and it will be primarily addressed to human malformation syndromes due to inborn errors of cholesterol biosynthesis pathway; the second par t will be concerned to benign hypolipidemias, as well as to the pathological forms caused by alterations of lipoprotein metabolism; finally, secondar y forms of hypolipidemia will be repor ted in the third par t.
Description
Keywords
Colesterol Defeitos da Biossíntese do Colesterol Doenças Cardio e Cérebro-vasculares Saúde Pública
Pedagogical Context
Citation
Boletim Epidemiológico Observações. 2018 janeiro-abril;7(21):12-16
Publisher
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP