{"id":10698,"date":"2023-01-05T18:04:52","date_gmt":"2023-01-05T18:04:52","guid":{"rendered":"https:\/\/panel.ptcbio.com\/it-p2025tc\/?page_id=10698"},"modified":"2023-01-05T18:04:52","modified_gmt":"2023-01-05T18:04:52","slug":"familial-chylomicronemia-syndrome","status":"publish","type":"page","link":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/familial-chylomicronemia-syndrome\/","title":{"rendered":"Familial chylomicronemia syndrome"},"content":{"rendered":"<div class=\"hero-header__outer-container\">\n\n\t<div class=\"hero hero--styled color-theme--denim-blue hero--no-image hero--normal-spacing\">\n\t\t\t\t\t\t<div class=\"hero__bg\">\n\t\t\t<div id=\"particles-js\" class=\"hero__constellation hero__constellation--center\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t\t\t<div class=\"hero__inner hero__inner--center\">\n\t\t\t<div class=\"hero__content hero__content--center hero__content--no-image\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"u-mt-1 u-my-2\"><h1 class=\"hero__title hero__title--standard\" data-ptc-fitty=\"\">Familial Chylomicronemia Syndrome (FCS)<\/h1><\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"hero__subtitle\">Serious disease that prevents the body from breaking down fats<\/div>\n\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t\t<div class=\"hero__breadcrumbs\"><nav\n\tclass=\"breadcrumbs breadcrumbs--deep\"\n\taria-label=\"Breadcrumb\"\n>\n\t<ol class=\"breadcrumbs__list\" itemscope itemtype=\"https:\/\/schema.org\/BreadcrumbList\">\n\t\t\t\t\t\t\t\t\t<li class=\"breadcrumbs__crumb breadcrumbs__crumb--light\" itemscope itemprop=\"itemListElement\" itemtype=\"https:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t\t\t\t\t\t<a class=\"breadcrumbs__link breadcrumbs__link--home breadcrumbs__link--light\" itemprop=\"item\" href=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/\">\n\t\t\t\t\t\t\t<span class=\"sr-only\" itemprop=\"name\">Homepage<\/span>\n\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t<meta itemprop=\"position\" 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itemprop=\"name\">Familial chylomicronemia syndrome<\/span>\n\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<meta itemprop=\"position\" content=\"3\" \/>\n\t\t\t\t<\/li>\n\t\t\t\t\t\t<\/ol>\n<\/nav>\n<\/div>\n\t<\/div>\n\n\n\n<figure class=\"wp-block-image alignright size-full is-resized is-style-lightbox\"><img loading=\"lazy\" decoding=\"async\" width=\"2560\" height=\"2047\" src=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1.jpg\" alt=\"FCS Signs and Symptoms\" class=\"wp-image-16553\" style=\"width:758px;height:auto\" srcset=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1.jpg 2560w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1-300x240.jpg 300w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1-1024x819.jpg 1024w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1-768x614.jpg 768w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1-1536x1228.jpg 1536w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1-2048x1638.jpg 2048w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1-400x320.jpg 400w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1-1126x900.jpg 1126w\" sizes=\"auto, (max-width: 2560px) 100vw, 2560px\" \/><button class=\"modal-toggle\" type=\"button\" data-bs-toggle=\"modal\" data-bs-target=\"#mg-image-modal\" aria-label=\"View image in lightbox\"><img fetchpriority=\"high\" decoding=\"async\" width=\"2560\" height=\"2047\" src=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1.jpg\" class=\"attachment-full size-full\" alt=\"FCS Signs and Symptoms\" hidden=\"\" loading=\"eager\" srcset=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1.jpg 2560w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1-300x240.jpg 300w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1-1024x819.jpg 1024w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1-768x614.jpg 768w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1-1536x1228.jpg 1536w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1-2048x1638.jpg 2048w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1-400x320.jpg 400w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1-1126x900.jpg 1126w\" sizes=\"(max-width: 2560px) 100vw, 2560px\" \/><\/button><\/figure>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"h-what-is-familial-chylomicronemia-syndrome\">What is Familial Chylomicronemia Syndrome?<\/h4>\n\n\n\n<p class=\"core-block core-paragraph\">Familial Chylomicronemia Syndrome (FCS) is a rare genetic and hereditary disease that prevents the body from digesting fats (triglycerides)<sup>1<\/sup>, leaving the patient debilitated and, depending on the severity, leading to death. FCS can manifest at various points in life, from childhood to adulthood.\u200b<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">\u200bThe signs and symptoms of FCS include<sup>2<\/sup>:\u200b<\/p>\n\n\n\n<ul class=\"core-block core-list core-list--ul\" class=\"wp-block-list\">\n<li>Hepatosplenomegaly (enlargement of the liver and spleen)\u200b<\/li>\n\n\n\n<li>Viscous blood\u200b<\/li>\n\n\n\n<li>Triglycerides above 880 mg\/dL\u200b<\/li>\n\n\n\n<li>Recurrent abdominal pain\u200b<\/li>\n\n\n\n<li>Pancreatitis crisis\u200b<\/li>\n\n\n\n<li>Memory alteration\u200b<\/li>\n\n\n\n<li>Confusion<\/li>\n\n\n\n<li>Fatigue<\/li>\n\n\n\n<li>Eruptive xanthoma (fat deposits on the skin)\u200b<\/li>\n\n\n\n<li>Lipemia retinalis (milky appearance of the veins and arteries in the retina)\u200b<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"h-how-common-is-familial-chylomicronemia-syndrome\">How Common is Familial Chylomicronemia Syndrome?<\/h4>\n\n\n\n<p class=\"core-block core-paragraph\">It is estimated that between one and two in every 1 million people worldwide are affected by FCS<sup>2<\/sup>.<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full is-resized is-style-lightbox\"><img loading=\"lazy\" decoding=\"async\" width=\"1248\" height=\"646\" src=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-prevalence.jpg\" alt=\"FCS prevalence\" class=\"wp-image-16552\" style=\"width:452px;height:auto\" srcset=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-prevalence.jpg 1248w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-prevalence-300x155.jpg 300w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-prevalence-1024x530.jpg 1024w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-prevalence-768x398.jpg 768w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-prevalence-400x207.jpg 400w\" sizes=\"auto, (max-width: 1248px) 100vw, 1248px\" \/><button class=\"modal-toggle\" type=\"button\" data-bs-toggle=\"modal\" data-bs-target=\"#mg-image-modal\" aria-label=\"View image in lightbox\"><img decoding=\"async\" width=\"1248\" height=\"646\" src=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-prevalence.jpg\" class=\"attachment-full size-full\" alt=\"FCS prevalence\" hidden=\"\" loading=\"eager\" srcset=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-prevalence.jpg 1248w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-prevalence-300x155.jpg 300w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-prevalence-1024x530.jpg 1024w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-prevalence-768x398.jpg 768w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-prevalence-400x207.jpg 400w\" sizes=\"(max-width: 1248px) 100vw, 1248px\" \/><\/button><\/figure>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"h-how-is-ptc-working-to-treat-familial-chylomicronemia-syndrome\">How is PTC Working to Treat Familial Chylomicronemia Syndrome?<\/h4>\n\n\n\n<p class=\"core-block core-paragraph\">PTC has in-licensed the rights to market a therapy from Ionis Pharmaceuticals in Latin America to treat FCS.<\/p>\n\n\n\n<div  class=\"references-block color-theme--purple-steel\">\n\t<div class=\"references-block__wrapper\">\n\n\t\t\t\t\t<div class=\"references-block__title heading--6\">\n\t\t\t\tReferences\t\t\t<\/div>\n\t\t\n\t\t<div class=\"references-block__content wysiwyg wysiwyg--pure\">\n\t\t\t<p>[1] Williams L, Rhodes KS, Karmally W, et al. Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span. J Clin Lipidol. 2018;12(4):908\u2013919.\u200b<\/p>\n<p>[2] Falko JM. Familial chylomicronemia syndrome: a clinical guide for endocrinologists. Endocr Pract. 2018;24(8):756\u2013763.)<\/p>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n<div  class=\"text-block text-block--standard color-theme--sky-blue-partial\">\n\t\t<div class=\"text-block__wrapper\" >\n\n\t\t\n\t\t\t\t\t<h3 class=\"text-block__heading\">\n\t\t\t\t<span class=\"heading--3\"  data-ptc-fitty=\"\">Do you have questions?<\/span>\n\t\t\t<\/h3>\n\t\t\n\t\t<div class=\"text-block__content wysiwyg--decoration wysiwyg--color\">\n\t\t\t<p><span class=\"NormalTextRun SCXP77754502 BCX0\">Please reach out if you would like to speak with\u00a0<\/span><span class=\"NormalTextRun SCXP77754502 BCX0\">us.<\/span><\/p>\n\t\t<\/div>\n\n\t\t\n\t\t\t<div class=\"dual-cta__ctas dual-cta__ctas--same dual-cta__ctas--center\">\n\n\t\t\t\t\t<a href=\"mailto:PatientInfo@ptcbio.com\" target=\"\" class=\"dual-cta__button btn btn--primary\">Patients and Families<\/a>\n\t\t\n\t\t\t\t\t<a href=\"mailto:MedInfo@ptcbio.com\" target=\"\" class=\"dual-cta__button btn btn--primary\">Heathcare Professionals<\/a>\n\t\t\n\t\t\n\t<\/div>\n\n\t<\/div>\n<\/div>\n\n","protected":false},"excerpt":{"rendered":"<p>What is Familial Chylomicronemia Syndrome? Familial Chylomicronemia Syndrome (FCS) is a rare genetic and hereditary disease that prevents the body from digesting fats (triglycerides)1, leaving the patient debilitated and, depending on the severity, leading to death. FCS can manifest at various points in life, from childhood to adulthood.\u200b \u200bThe signs and symptoms of FCS include2:\u200b&hellip;<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":9951,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-10698","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.5 (Yoast SEO v27.5) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Familial chylomicronemia syndrome - PTC Therapeutics (Italy)<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/familial-chylomicronemia-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Familial chylomicronemia syndrome\" \/>\n<meta property=\"og:description\" content=\"What is Familial Chylomicronemia Syndrome? Familial Chylomicronemia Syndrome (FCS) is a rare genetic and hereditary disease that prevents the body from digesting fats (triglycerides)1, leaving the patient debilitated and, depending on the severity, leading to death. 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Familial Chylomicronemia Syndrome (FCS) is a rare genetic and hereditary disease that prevents the body from digesting fats (triglycerides)1, leaving the patient debilitated and, depending on the severity, leading to death. FCS can manifest at various points in life, from childhood to adulthood.\u200b \u200bThe signs and symptoms of FCS include2:\u200b&hellip;","og_url":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/familial-chylomicronemia-syndrome\/","og_site_name":"PTC Therapeutics (Italy)","og_image":[{"url":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1.jpg","type":"","width":"","height":""}],"twitter_card":"summary_large_image","twitter_misc":{"Tempo di lettura stimato":"2 minuti"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/familial-chylomicronemia-syndrome\/","url":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/familial-chylomicronemia-syndrome\/","name":"Familial chylomicronemia syndrome - PTC Therapeutics (Italy)","isPartOf":{"@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/#website"},"primaryImageOfPage":{"@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/familial-chylomicronemia-syndrome\/#primaryimage"},"image":{"@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/familial-chylomicronemia-syndrome\/#primaryimage"},"thumbnailUrl":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1.jpg","datePublished":"2023-01-05T18:04:52+00:00","breadcrumb":{"@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/familial-chylomicronemia-syndrome\/#breadcrumb"},"inLanguage":"it-IT","potentialAction":[{"@type":"ReadAction","target":["https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/familial-chylomicronemia-syndrome\/"]}]},{"@type":"ImageObject","inLanguage":"it-IT","@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/familial-chylomicronemia-syndrome\/#primaryimage","url":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1.jpg","contentUrl":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/12\/FCS-Signs-and-Symptoms-scaled-1.jpg","width":2560,"height":2047,"caption":"FCS Signs and Symptoms"},{"@type":"BreadcrumbList","@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/familial-chylomicronemia-syndrome\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/panel.ptcbio.com\/it-p2025tc\/"},{"@type":"ListItem","position":2,"name":"Therapeutic Areas","item":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/"},{"@type":"ListItem","position":3,"name":"Familial chylomicronemia syndrome"}]},{"@type":"WebSite","@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/#website","url":"https:\/\/panel.ptcbio.com\/it-p2025tc\/","name":"PTC Therapeutics Italia","description":"","publisher":{"@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/panel.ptcbio.com\/it-p2025tc\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"it-IT"},{"@type":"Organization","@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/#organization","name":"PTC Therapeutics Italia","url":"https:\/\/panel.ptcbio.com\/it-p2025tc\/","logo":{"@type":"ImageObject","inLanguage":"it-IT","@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/#\/schema\/logo\/image\/","url":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2026\/04\/ptcLogo.png","contentUrl":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2026\/04\/ptcLogo.png","width":542,"height":542,"caption":"PTC Therapeutics Italia"},"image":{"@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/#\/schema\/logo\/image\/"}}]}},"_links":{"self":[{"href":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-json\/wp\/v2\/pages\/10698","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-json\/wp\/v2\/comments?post=10698"}],"version-history":[{"count":0,"href":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-json\/wp\/v2\/pages\/10698\/revisions"}],"up":[{"embeddable":true,"href":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-json\/wp\/v2\/pages\/9951"}],"wp:attachment":[{"href":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-json\/wp\/v2\/media?parent=10698"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}