{"id":738,"date":"2024-05-01T16:12:50","date_gmt":"2024-05-01T16:12:50","guid":{"rendered":"https:\/\/www.chiesimedical.co.uk\/patient\/?page_id=738"},"modified":"2025-02-06T20:52:37","modified_gmt":"2025-02-06T20:52:37","slug":"fabry-disease","status":"publish","type":"page","link":"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/fabry-disease\/","title":{"rendered":"Fabry disease"},"content":{"rendered":"\n        <div class=\"therapy-areas-inner-page-nav\">\n                            \n        <a class=\"therapy-areas-inner-page-nav__item green \" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/alpha-mannosidosis\/\">\n            <div class=\"therapy-areas-inner-page-nav__title\">\n                                    <h2 class=\"title\">Alpha-mannosidosis<\/h2>\n                            <\/div>\n        <\/a>\n                            \n        <a class=\"therapy-areas-inner-page-nav__item green selected\" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/fabry-disease\/\">\n            <div class=\"therapy-areas-inner-page-nav__title\">\n                                    <h2 class=\"title\">Fabry disease<\/h2>\n                            <\/div>\n        <\/a>\n                            \n        <a class=\"therapy-areas-inner-page-nav__item green \" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/cystinosis\/\">\n            <div class=\"therapy-areas-inner-page-nav__title\">\n                                    <h2 class=\"title\">Nephropathic cystinosis<\/h2>\n                            <\/div>\n        <\/a>\n                            \n        <a class=\"therapy-areas-inner-page-nav__item green \" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/thalassaemia\/\">\n            <div class=\"therapy-areas-inner-page-nav__title\">\n                                    <h2 class=\"title\">Beta-thalassaemia<\/h2>\n                            <\/div>\n        <\/a>\n                            \n        <a class=\"therapy-areas-inner-page-nav__item green \" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/lebers-hereditary-optic-neuropathy\/\">\n            <div class=\"therapy-areas-inner-page-nav__title\">\n                                    <h2 class=\"title\">Leber hereditary optic neuropathy<\/h2>\n                            <\/div>\n        <\/a>\n                            \n        <a class=\"therapy-areas-inner-page-nav__item green \" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/homozygous-familial-hypercholesterolemia\/\">\n            <div class=\"therapy-areas-inner-page-nav__title\">\n                                    <h2 class=\"title\">Homozygous familial hypercholesterolemia<\/h2>\n                            <\/div>\n        <\/a>\n                            \n        <a class=\"therapy-areas-inner-page-nav__item green \" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/lipodystrophy\/\">\n            <div class=\"therapy-areas-inner-page-nav__title\">\n                                    <h2 class=\"title\">Lipodystrophy<\/h2>\n                            <\/div>\n        <\/a>\n                            \n        <a class=\"therapy-areas-inner-page-nav__item green \" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/epidermolysis-bullosa\/\">\n            <div class=\"therapy-areas-inner-page-nav__title\">\n                                    <h2 class=\"title\">Epidermolysis bullosa<\/h2>\n                            <\/div>\n        <\/a>\n        <\/div>\n\n\n\n<h2 class=\"wp-block-heading content-width-full flush-left\">Fabry disease<\/h2>\n\n\n\n<p class=\"content-width-full flush-left\">Fabry disease is a genetic condition affecting whole body systems including the kidneys and heart. It is caused by a change in the <em>GLA <\/em>gene, which leads to the accumulation of fats to harmful levels in various organs, such as the kidneys, heart, eyes, and nervous system.<sup>1\u20133<\/sup><\/p>\n\n\n\n<p class=\"content-width-full flush-left\">Fabry disease is also known as:<sup>1,2<\/sup><\/p>\n\n\n\n<ul class=\"wp-block-list content-width-full flush-left\">\n<li>Anderson-Fabry disease<\/li>\n\n\n\n<li>Alpha-galactosidase-A deficiency<\/li>\n<\/ul>\n\n\n\n<p class=\"content-width-full flush-left\">Fabry disease is currently estimated to affect 1 in 40,000 people in the UK and can cause severe symptoms in both men and women.<sup>2,3<\/sup><\/p>\n\n\n\n<h3 class=\"wp-block-heading flush-left\">Fabry disease signs and symptoms usually appear during childhood or adolescence and can include:<sup>1\u20133<\/sup><\/h3>\n\n\n\n    <div class=\"causes-and-triggers\">\n                    \n        <div class=\"causes-and-triggers__item\">\n            <svg class=\"causes-and-triggers__icon\">\n                <use xlink:href=\"#intestine\" \/>\n            <\/svg>\n                            <p class=\"h4\">Gastrointestinal difficulties<\/p>\n                    <\/div>\n                    \n        <div class=\"causes-and-triggers__item\">\n            <svg class=\"causes-and-triggers__icon\">\n                <use xlink:href=\"#stress\" \/>\n            <\/svg>\n                            <p class=\"h4\">Fatigue<\/p>\n                    <\/div>\n                    \n        <div class=\"causes-and-triggers__item\">\n            <svg class=\"causes-and-triggers__icon\">\n                <use xlink:href=\"#skin-clusters\" \/>\n            <\/svg>\n                            <p class=\"h4\">Decreased ability to sweat<\/p>\n                    <\/div>\n                    \n        <div class=\"causes-and-triggers__item\">\n            <svg class=\"causes-and-triggers__icon\">\n                <use xlink:href=\"#cold-air\" \/>\n            <\/svg>\n                            <p class=\"h4\">Intolerance to hot or cold <\/p>\n                    <\/div>\n        <\/div>\n\n\n\n\n<p>In male patients, Fabry disease is diagnosed with a blood test to measure activity of an enzyme called alpha-galactosidase-A.<sup>2\u20134<\/sup> If the activity is low or undetectable, genetic testing may be carried out to confirm the diagnosis.<sup>2\u20134<\/sup> Diagnosis in female patients can be confirmed with a genetic test to identify changes in the <em>GLA<\/em> gene.<sup>2\u20134<\/sup><\/p>\n\n\n\n<p>It is important to note that those living with Fabry disease may have very different experiences of the disease and symptoms. If you, or anyone you know, is or may be affected by symptoms of Fabry disease, please speak to a healthcare professional as soon as possible to get appropriate advice.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Further support and resources<\/h3>\n\n\n\n<p>There are several organisations and charities across the UK that aim to raise awareness for patients with rare diseases. Many provide a supportive community in which individuals and their families can both seek and offer support to others facing similar challenges.<\/p>\n\n\n\n<p>For resources to support you with managing your condition:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/metabolicsupportuk.org\/\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>Metabolic Support UK<\/strong><\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.mpssociety.org.uk\/\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>MPS Society<\/strong><\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/index.php\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>Orphanet<\/strong><\/a><strong> <\/strong><\/li>\n\n\n\n<li><a href=\"https:\/\/www.raredisease.org.uk\/\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>Rare Disease UK<\/strong><\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading grey-background full-width-item alignfull\">Patient Resources<\/h2>\n\n\n\n<div class=\"wp-block-media-text is-stacked-on-mobile is-vertically-aligned-top grey-background full-width-item alignfull no-line\"><figure class=\"wp-block-media-text__media\"><img loading=\"lazy\" decoding=\"async\" width=\"523\" height=\"256\" src=\"https:\/\/www.chiesimedical.co.uk\/patient\/wp-content\/uploads\/2024\/05\/image-29.png\" alt=\"\" class=\"wp-image-899 size-full\" srcset=\"https:\/\/www.chiesimedical.co.uk\/patient\/wp-content\/uploads\/2024\/05\/image-29.png 523w, https:\/\/www.chiesimedical.co.uk\/patient\/wp-content\/uploads\/2024\/05\/image-29-300x147.png 300w\" sizes=\"auto, (max-width: 523px) 100vw, 523px\" \/><\/figure><div class=\"wp-block-media-text__content\">\n<p>If you\u2019re a patient, or a carer of a patient, who has been prescribed one of our products, you\u2019ll find information and resources to help manage your condition here<\/p>\n\n\n\n<div class=\"cta left\">\n    \n            <a class=\"button cta-button\" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/patient-resources\/\" target=\"\">\n            Access resources\n            <svg class=\"icon icon-arrow\">\n                <use xlink:href=\"#arrow\" \/>\n            <\/svg>\n\n            <span class=\"line top\"><\/span>\n            <span class=\"line right\"><\/span>\n            <span class=\"line bottom\"><\/span>\n            <span class=\"line left\"><\/span>\n        <\/a>\n    <\/div>\n<\/div><\/div>\n\n\n\n<p><\/p>\n\n\n\n<div class=\"cta center\">\n            <p><span class=\"NormalTextRun SCXW122606192 BCX0\">If you\u2019re a patient or a <\/span><span class=\"NormalTextRun ContextualSpellingAndGrammarErrorV2Themed SCXW122606192 BCX0\">carer<\/span><span class=\"NormalTextRun SCXW122606192 BCX0\"> of someone living with Fabry disease, access the shared decision-making toolkit. This toolkit was funded by Chiesi Limited and developed in collaboration with\u202fRare Disease Research Partners.<\/span><\/p>\n    \n            <a class=\"button cta-button\" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/fabry-disease\/living-well-with-fabry-shared-decision-making-toolkit\/\" target=\"\">\n            Living well with Fabry: a shared decision-making toolkit. \n            <svg class=\"icon icon-arrow\">\n                <use xlink:href=\"#arrow\" \/>\n            <\/svg>\n\n            <span class=\"line top\"><\/span>\n            <span class=\"line right\"><\/span>\n            <span class=\"line bottom\"><\/span>\n            <span class=\"line left\"><\/span>\n        <\/a>\n    <\/div>\n\n\n\n<div class=\"back-to-top\">\n    <ul class=\"back-to-top-inner\">\n        <li>\n            <a class=\"back-to-top-link\">\n                <p>Back to&nbsp;top<\/p>\n            <\/a>\n        <\/li>\n    <\/ul>\n<\/div>\n\n\n\n<div class=\"references-block\">\n    <h4>References<\/h4>\n<ol>\n<li>National Institute of Neurological Disorders and Stroke. Fabry disease. Available at: https:\/\/www.ninds.nih.gov\/health-information\/disorders\/fabry-disease.<\/li>\n<li>MPS Society. Fabry. Available at: https:\/\/mpssociety.org.uk\/conditions\/fabry.<\/li>\n<li>NHS North Bristol. Fabry disease service. Available at: https:\/\/www.nbt.nhs.uk\/sites\/default\/files\/Fabry%20Disease%20Service.pdf.<\/li>\n<li>NHS Gloucestershire Hospitals. Alpha-Galactosidase A (Fabry\u2019s Disease). Available at: https:\/\/www.gloshospitals.nhs.uk\/our-services\/services-we-offer\/pathology\/tests-and-investigations\/alpha-galactosidase\/.<\/li>\n<\/ol>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Fabry disease Fabry disease is a genetic condition affecting whole body systems including the kidneys and heart. It is caused by a change in the GLA gene, which leads to the accumulation of fats to harmful levels in various organs, such as the kidneys, heart, eyes, and nervous system.1\u20133 Fabry disease is also known as:1,2 [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":488,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"templates\/rare-diseases.php","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-738","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/pages\/738","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/comments?post=738"}],"version-history":[{"count":35,"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/pages\/738\/revisions"}],"predecessor-version":[{"id":2128,"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/pages\/738\/revisions\/2128"}],"up":[{"embeddable":true,"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/pages\/488"}],"wp:attachment":[{"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/media?parent=738"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}