{"id":8004,"date":"2023-02-20T14:14:14","date_gmt":"2023-02-20T14:14:14","guid":{"rendered":"https:\/\/www.healthnews.ie\/?p=8004"},"modified":"2023-03-02T09:59:52","modified_gmt":"2023-03-02T09:59:52","slug":"an-evolving-story-improving-care-for-hereditary-attr-amyloidosis","status":"publish","type":"post","link":"https:\/\/www.healthnews.ie\/rare-diseases\/an-evolving-story-improving-care-for-hereditary-attr-amyloidosis\/","title":{"rendered":"An evolving story: improving care for hereditary ATTR amyloidosis"},"content":{"rendered":"\n<div style=\"background-color:#f2f2f2;color:#32373c\" class=\"wp-block-atomic-blocks-ab-profile-box round ab-has-avatar ab-font-size-14 ab-block-profile ab-profile-columns\"><div class=\"ab-profile-column ab-profile-avatar-wrap\"><div class=\"ab-profile-image-wrap\"><figure class=\"ab-profile-image-square\"><img loading=\"lazy\" decoding=\"async\" width=\"159\" height=\"159\" class=\"ab-profile-avatar wp-image-8058\" src=\"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210459\/DrAislingRyan.jpg\" alt=\"\" srcset=\"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210459\/DrAislingRyan.jpg 159w, https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210459\/DrAislingRyan-125x125.jpg 125w\" sizes=\"auto, (max-width: 159px) 100vw, 159px\" \/><\/figure><\/div><\/div><div class=\"ab-profile-column ab-profile-content-wrap\"><h2 class=\"ab-profile-name\" style=\"color:#32373c\">Prof Aisling Ryan<\/h2><p class=\"ab-profile-title\" style=\"color:#32373c\">Consultant Neurologist, Cork University Hospital (CUH) and Adjunct Associate Professor, Trinity College Dublin<\/p><div class=\"ab-profile-text\"><\/div><ul class=\"ab-social-links\"><\/ul><\/div><\/div>\n\n\n\n<p><em><a href=\"https:\/\/www.hattr-amyloidosis.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">Hereditary ATTR amyloidosis<\/a>, characterised by the abnormal build-up of amyloid protein in the body\u2019s organs, is caused by an inherited mutation in the transthyretin (TTR) gene.<\/em><\/p>\n\n\n\n<hr class=\"wp-block-separator\"\/>\n\n\n\n<p>Hereditary transthyretin mediated amyloidosis (or hATTR amyloidosis) affects the nerves and heart, as well as the gastrointestinal and autonomic nervous systems. Over time, patients can lose motor function, become prone to falls and eventually develop heart failure.&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Mutations of hATTR amyloidosis<\/strong><\/h2>\n\n\n\n<p><strong>&nbsp;<\/strong>\u201cIt is a tough, unpleasant disease as it progresses,\u201d says Professor Aisling Ryan, Consultant Neurologist at Cork University Hospital. \u201cUntil recently, we didn\u2019t have a treatment for it.\u201d&nbsp;<\/p>\n\n\n\n<p>There are over 120 different mutations in the TTR gene. In Ireland, the most common mutation is found in Donegal, while another recently-discovered mutation has been located in the Kerry and Cork area. Patients with this mutation often report carpal tunnel syndrome in both hands and may have a personal or family history of heart problems.&nbsp;<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\"><p>In Ireland, the most common mutation is found in Donegal, while another recently-discovered mutation has been located in the Kerry and Cork area.<\/p><\/blockquote>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-managing-the-symptoms\"><strong>Managing the symptoms<\/strong><\/h2>\n\n\n\n<p>Cork University Hospital has a specialist diagnostic and treatment centre which helps patients manage symptoms. \u201cThe availability of treatments has improved care in recent years\u201d Professor Ryan adds. \u201cThere is solid evidence that these medicines have the potential to slow the progression or, for some patients, to improve lost function. If a health professional has even half a suspicion of amyloid, they should refer the patient to an expert.&nbsp;<\/p>\n\n\n\n<p>\u201cIt\u2019s an evolving story \u2014 and it\u2019s been a privilege to be part of that journey.\u201d&nbsp;<\/p>\n\n\n<!DOCTYPE html PUBLIC \"-\/\/W3C\/\/DTD HTML 4.0 Transitional\/\/EN\" \"http:\/\/www.w3.org\/TR\/REC-html40\/loose.dtd\">\n<html><body><div style=\"text-align:center\" class=\"wp-block-atomic-blocks-ab-button ab-block-button\"><a href=\"https:\/\/www.hattr-amyloidosis.org\/\" target=\"_blank\" rel=\"noopener noreferrer\" class=\"ab-button ab-button-shape-rounded ab-button-size-medium fb-pixel\" style=\"color:#ffffff;background-color:#163683\">Click here to learn more<\/a><\/div>\n<\/body><\/html>\n\n\n\n<p class=\"has-text-align-right\" style=\"font-size:11px\">DS- UK \u2013 00003 , Feb 2023<br><meta charset=\"utf-8\"><em>Alnylam are the sole sponsors of this content only. They nominated the two interviewees and reviewed all content prior to publication.<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Hereditary ATTR amyloidosis, characterised by the abnormal build-up of amyloid protein in the body\u2019s organs, is caused by an inherited mutation in the transthyretin (TTR) gene. Hereditary transthyretin mediated amyloidosis (or hATTR amyloidosis) affects the nerves and heart, as well as the gastrointestinal and autonomic nervous systems. Over time, patients can lose motor function, become &hellip; <a href=\"https:\/\/www.healthnews.ie\/rare-diseases\/an-evolving-story-improving-care-for-hereditary-attr-amyloidosis\/\">Continued<\/a><\/p>\n","protected":false},"author":108,"featured_media":8008,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[5778],"tags":[5779],"class_list":["post-8004","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-rare-diseases","tag-rare-diseases-q1-2023"],"acf":[],"featured_image_src":"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210505\/GettyImages-1292241623-600x400.png","featured_image_src_square":"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210505\/GettyImages-1292241623-600x600.png","author_info":{"display_name":"Carolina Galbraith Duarte","author_link":"https:\/\/www.healthnews.ie\/author\/carolinagalbraithduarte\/"},"vicky_index_order":"","_links":{"self":[{"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/posts\/8004","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/users\/108"}],"replies":[{"embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/comments?post=8004"}],"version-history":[{"count":20,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/posts\/8004\/revisions"}],"predecessor-version":[{"id":8282,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/posts\/8004\/revisions\/8282"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/media\/8008"}],"wp:attachment":[{"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/media?parent=8004"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/categories?post=8004"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/tags?post=8004"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}