{"id":292,"date":"2026-11-02T13:18:22","date_gmt":"2026-11-02T12:18:22","guid":{"rendered":"https:\/\/adnacademy.yohanndeprez.fr\/cas-cliniques\/hypercholesterolemie-familiale-genetique\/"},"modified":"2026-11-10T10:38:01","modified_gmt":"2026-11-10T09:38:01","slug":"hypercholesterolemie-familiale-genetique","status":"publish","type":"page","link":"https:\/\/adn-academy.com\/en\/cas-cliniques\/hypercholesterolemie-familiale-genetique\/","title":{"rendered":"Hypercholest\u00e9rol\u00e9mie familiale et g\u00e9n\u00e9tique"},"content":{"rendered":"<div class=\"wp-block-group adn-hero is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-group adn-hero-inner is-layout-flow wp-block-group-is-layout-flow\">\n<nav class=\"breadcrumb\" aria-label=\"Breadcrumb\"><a href=\"\/en\/\">Home<\/a><span aria-hidden=\"true\">\/<\/span><a href=\"\/en\/ressources\/\">Resources<\/a><span aria-hidden=\"true\">\/<\/span><a href=\"\/en\/cas-cliniques\/\">Clinical cases<\/a><span aria-hidden=\"true\">\/<\/span><span aria-current=\"page\">Hypercholest\u00e9rol\u00e9mie familiale et g\u00e9n\u00e9tique<\/span><\/nav>\n\n\n<p class=\"adn-hero-eyebrow wp-block-paragraph\">Clinical case \u00b7 Nutrition<\/p>\n\n\n<h1 class=\"wp-block-heading\">Hypercholest\u00e9rol\u00e9mie familiale et g\u00e9n\u00e9tique<\/h1>\n\n\n<p class=\"adn-hero-description wp-block-paragraph\">Pourquoi certaines personnes conservent-elles un taux de cholest\u00e9rol \u00e9lev\u00e9 malgr\u00e9 un traitement adapt\u00e9 et une bonne observance ? Les pr\u00e9dispositions g\u00e9n\u00e9tiques peuvent-elles contribuer \u00e0 expliquer les diff\u00e9rences de r\u00e9ponse aux traitements et le risque cardiovasculaire ?<\/p>\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"#etude\">Read the case<\/a><\/div>\n\n\n<\/div>\n\n<\/div>\n\n<\/div>\n\n\n<section id=\"etude\" class=\"wp-block-group adn-home-section adn-course-section adn-clinical-detail is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-group adn-home-inner is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-group adn-clinical-layout is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-group adn-clinical-story is-layout-flow wp-block-group-is-layout-flow\">\n<figure class=\"wp-block-image size-full adn-clinical-image adn-clinical-image--hypercholesterolemie-familiale-genetique\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/adn-academy.com\/wp-content\/uploads\/2026\/11\/adn-hypercholesterolemie-famille.jpg\" alt=\"Illustration du cas clinique : Hypercholest\u00e9rol\u00e9mie familiale et g\u00e9n\u00e9tique\" class=\"wp-image-291\" width=\"1400\" height=\"788\" srcset=\"https:\/\/adn-academy.com\/wp-content\/uploads\/2026\/11\/adn-hypercholesterolemie-famille.jpg 1400w, https:\/\/adn-academy.com\/wp-content\/uploads\/2026\/11\/adn-hypercholesterolemie-famille-300x169.jpg 300w, https:\/\/adn-academy.com\/wp-content\/uploads\/2026\/11\/adn-hypercholesterolemie-famille-1024x576.jpg 1024w, https:\/\/adn-academy.com\/wp-content\/uploads\/2026\/11\/adn-hypercholesterolemie-famille-768x432.jpg 768w, https:\/\/adn-academy.com\/wp-content\/uploads\/2026\/11\/adn-hypercholesterolemie-famille-18x10.jpg 18w\" sizes=\"auto, (max-width: 1400px) 100vw, 1400px\" \/><\/figure>\n\n\n<p class=\"adn-clinical-byline wp-block-paragraph\">Case presented by Dr Dominique Cellier<\/p>\n\n<h2 id=\"contexte\" class=\"wp-block-heading\">Contexte clinique<\/h2>\n<p class=\"wp-block-paragraph\">Rose, 57 ans, est atteinte d&#x27;une hypercholest\u00e9rol\u00e9mie familiale diagnostiqu\u00e9e depuis plusieurs ann\u00e9es. En 2021, elle a pr\u00e9sent\u00e9 une maladie coronarienne ayant n\u00e9cessit\u00e9 la pose de stents. Malgr\u00e9 un traitement par statines et plusieurs ajustements th\u00e9rapeutiques, son LDL-cholest\u00e9rol reste insuffisamment contr\u00f4l\u00e9. Elle souffre \u00e9galement de douleurs musculaires qui compliquent son activit\u00e9 professionnelle d&#x27;aide m\u00e9nag\u00e8re. Inqui\u00e8te face au risque de r\u00e9cidive cardiovasculaire, elle s&#x27;interroge : \u00ab Pourquoi mon cholest\u00e9rol reste-t-il \u00e9lev\u00e9 alors que je suis mon traitement ? \u00bb<\/p>\n<h2 id=\"analyse\" class=\"wp-block-heading\">Le g\u00e8ne en cause : APOE<\/h2>\n<p class=\"wp-block-paragraph\">Dans le cadre d&#x27;une r\u00e9\u00e9valuation cardiologique et lipidologique, une exploration g\u00e9n\u00e9tique est envisag\u00e9e. Celle-ci met en \u00e9vidence un variant du g\u00e8ne APOE, impliqu\u00e9 dans le transport et le m\u00e9tabolisme des lipides. Certains variants, notamment l&#x27;all\u00e8le \u03b54, sont associ\u00e9s \u00e0 des concentrations de LDL-cholest\u00e9rol plus \u00e9lev\u00e9es et peuvent influencer la r\u00e9ponse aux graisses alimentaires. Cette d\u00e9couverte permet \u00e0 Rose de comprendre que sa situation ne d\u00e9pend pas uniquement de ses habitudes de vie. Toutefois, ce variant ne permet pas \u00e0 lui seul d&#x27;expliquer l&#x27;efficacit\u00e9 insuffisante des statines ni les douleurs musculaires observ\u00e9es.<\/p>\n<h2 id=\"genetique\" class=\"wp-block-heading\">L&#x27;int\u00e9r\u00eat de la g\u00e9n\u00e9tique et de l&#x27;\u00e9pig\u00e9n\u00e9tique<\/h2>\n<p class=\"wp-block-paragraph\">La g\u00e9n\u00e9tique apporte un \u00e9clairage compl\u00e9mentaire sur les facteurs pouvant influencer le m\u00e9tabolisme du cholest\u00e9rol et la r\u00e9ponse aux traitements. Elle ne remplace toutefois ni l&#x27;\u00e9valuation clinique ni le suivi biologique. Les facteurs environnementaux, nutritionnels et le mode de vie interagissent en permanence avec les pr\u00e9dispositions g\u00e9n\u00e9tiques. Cette approche permet de mieux comprendre les diff\u00e9rences individuelles de risque cardiovasculaire et d&#x27;adapter la prise en charge dans une logique de m\u00e9decine personnalis\u00e9e.<\/p>\n<h2 id=\"accompagnement\" class=\"wp-block-heading\">Une prise en charge personnalis\u00e9e<\/h2>\n<p class=\"wp-block-paragraph\">L&#x27;objectif est d&#x27;obtenir un meilleur contr\u00f4le du LDL-cholest\u00e9rol tout en am\u00e9liorant la tol\u00e9rance au traitement. Selon les r\u00e9sultats du bilan, des alternatives ou associations aux statines peuvent \u00eatre envisag\u00e9es, comme l&#x27;\u00e9z\u00e9timibe ou les inhibiteurs de PCSK9. L&#x27;accompagnement nutritionnel favorise la r\u00e9duction des graisses satur\u00e9es et l&#x27;augmentation des fibres solubles, des l\u00e9gumineuses et des mati\u00e8res grasses insatur\u00e9es. Associ\u00e9es \u00e0 une activit\u00e9 physique adapt\u00e9e, ces mesures permettent d&#x27;optimiser la pr\u00e9vention cardiovasculaire tout en pr\u00e9servant la qualit\u00e9 de vie et l&#x27;autonomie de Rose.<\/p>\n<\/div>\n\n<aside class=\"wp-block-group adn-course-panel adn-clinical-aside is-layout-flow wp-block-group-is-layout-flow\">\n<p class=\"adn-section-label wp-block-paragraph\">The practitioner\u2019s perspective<\/p>\n\n\n<figure class=\"wp-block-image size-full adn-clinical-portrait\"><img loading=\"lazy\" decoding=\"async\" width=\"200\" height=\"200\" src=\"https:\/\/adn-academy.com\/wp-content\/uploads\/2026\/09\/dominique-cellier.jpg\" alt=\"Dominique Cellier\" class=\"wp-image-72\" srcset=\"https:\/\/adn-academy.com\/wp-content\/uploads\/2026\/09\/dominique-cellier.jpg 200w, https:\/\/adn-academy.com\/wp-content\/uploads\/2026\/09\/dominique-cellier-150x150.jpg 150w\" sizes=\"auto, (max-width: 200px) 100vw, 200px\" \/><\/figure>\n\n\n<h3 class=\"wp-block-heading\">Dominique Cellier<\/h3>\n\n\n<p class=\"adn-clinical-role wp-block-paragraph\">Physician specialising in nutrition \u00b7 Scientific Director<\/p>\n\n\n<p class=\"wp-block-paragraph\">Passionate about patient support and therapeutic education, Dominique Cellier draws on 20 years of research into obesity and excess weight, as well as behavioural and genetic mechanisms. He is the author of the Genetics &amp; Nutrition course.<\/p>\n\n\n<nav class=\"adn-clinical-nav\" aria-label=\"In this clinical case\"><a href=\"#contexte\">Contexte clinique <span aria-hidden=\"true\">\u2192<\/span><\/a><a href=\"#analyse\">Le g\u00e8ne en cause : APOE <span aria-hidden=\"true\">\u2192<\/span><\/a><a href=\"#genetique\">L&#x27;int\u00e9r\u00eat de la g\u00e9n\u00e9tique et de l&#x27;\u00e9pig\u00e9n\u00e9tique <span aria-hidden=\"true\">\u2192<\/span><\/a><a href=\"#accompagnement\">Une prise en charge personnalis\u00e9e <span aria-hidden=\"true\">\u2192<\/span><\/a><\/nav>\n\n<\/aside>\n\n<\/div>\n\n<\/div>\n\n<\/section>\n\n\n<section id=\"programme\" class=\"wp-block-group adn-home-section adn-course-section is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-group adn-home-inner is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-group adn-course-enquiry is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-group adn-course-copy is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-group adn-section-heading is-layout-flow wp-block-group-is-layout-flow\">\n<p class=\"adn-section-label wp-block-paragraph\">Explore further<\/p>\n\n\n<h2 class=\"wp-block-heading\"><mark style=\"background-color:rgba(0, 0, 0, 0);color:#2E4057\" class=\"has-inline-color\">Get<\/mark> <mark style=\"background-color:rgba(0, 0, 0, 0);color:#279D5E\" class=\"has-inline-color\">the detailed programme<\/mark><\/h2>\n\n<\/div>\n\n\n<p class=\"wp-block-paragraph\">Explore these topics further with the <strong>Genetics &amp; Nutrition<\/strong>course. Discover its content and speak to the ADNAcademy team.<\/p>\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><a class=\"wp-block-button__link wp-element-button\" href=\"\/en\/formations\/genetique-nutrition\/\">Explore the course<\/a><\/div>\n\n<\/div>\n\n<\/div>\n\n\n<div class=\"wp-block-group adn-course-form is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"adn-form-consent\"><p>This form is provided by HubSpot. Allow it to load to receive the programme or request enrolment.<\/p><button type=\"button\" class=\"adn-button\" data-cookie-settings>Show the form<\/button><\/div><div class=\"adn-hubspot-mount\" data-hubspot-form=\"b209f8a7-aac5-4a30-acd7-d64a99648aa6\"><\/div><noscript><p>Enable JavaScript to view the form, or contact us at <a href=\"mailto:contact@adn-academy.com\">contact@adn-academy.com<\/a>.<\/p><\/noscript>\n\n<\/div>\n\n<\/div>\n\n<\/div>\n\n<\/section>\n\n\n<section class=\"wp-block-group adn-home-section adn-course-section adn-section-tinted adn-clinical-back is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-group adn-home-inner is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"\/en\/cas-cliniques\/\">All clinical cases<\/a><\/div>\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--2\"><a class=\"wp-block-button__link wp-element-button\" href=\"\/en\/ressources\/\">Explore our resources<\/a><\/div>\n\n<\/div>\n\n<\/div>\n\n<\/section>","protected":false},"excerpt":{"rendered":"<p>Pourquoi certaines personnes conservent-elles un taux de cholest\u00e9rol \u00e9lev\u00e9 malgr\u00e9 un traitement adapt\u00e9 et une bonne observance ? Les pr\u00e9dispositions g\u00e9n\u00e9tiques peuvent-elles contribuer \u00e0 expliquer les diff\u00e9rences de r\u00e9ponse aux traitements et le risque cardiovasculaire ?<\/p>","protected":false},"author":1,"featured_media":291,"parent":21,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-292","page","type-page","status-publish","has-post-thumbnail","hentry"],"_links":{"self":[{"href":"https:\/\/adn-academy.com\/en\/wp-json\/wp\/v2\/pages\/292","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/adn-academy.com\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/adn-academy.com\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/adn-academy.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/adn-academy.com\/en\/wp-json\/wp\/v2\/comments?post=292"}],"version-history":[{"count":2,"href":"https:\/\/adn-academy.com\/en\/wp-json\/wp\/v2\/pages\/292\/revisions"}],"predecessor-version":[{"id":319,"href":"https:\/\/adn-academy.com\/en\/wp-json\/wp\/v2\/pages\/292\/revisions\/319"}],"up":[{"embeddable":true,"href":"https:\/\/adn-academy.com\/en\/wp-json\/wp\/v2\/pages\/21"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/adn-academy.com\/en\/wp-json\/wp\/v2\/media\/291"}],"wp:attachment":[{"href":"https:\/\/adn-academy.com\/en\/wp-json\/wp\/v2\/media?parent=292"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}