L'hypercholestérolémie familiale homozygote (HFHo) est une maladie héréditaire rare qui entraîne des taux de cholestérol extrêmement élevés dès la naissance. L'HFHo augmente considérablement le risque de maladie cardiovasculaire précoce, parfois avant l'âge de 20 ans, chez les personnes qui ne sont pas traitées. Les possibilités de traitement comprennent des médicaments sous forme de comprimés, administrés par voie injectable et par voie intraveineuse, ainsi que l'aphérèse des lipoprotéines. L'HFHo provient de l'héritage de deux gènes mutés, un de chaque parent. Lorsqu'un gène muté est transmis, cela mène à l'hypercholestérolémie familiale hétérozygote (HFHe). L'HFHe est plus courante et moins sévère que l'HFHo. Un test génétique, quand il est disponible, permet de confirmer le diagnostic.

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Yes, you can access Fast Facts pour les patients: Hypercholestérolémie familiale homozygote by Charlotte Dawson,Albert Wiegmann,Charlotte, Dawson,Albert, Wiegmann in PDF and/or ePUB format, as well as other popular books in Medicine & Genetics in Medicine. We have over one million books available in our catalogue for you to explore.