{"id":97,"date":"2022-09-26T19:46:32","date_gmt":"2022-09-26T19:46:32","guid":{"rendered":"https:\/\/naglazymehcp-dev-001.azurewebsites.net\/en-us\/naglazyme\/?page_id=97"},"modified":"2023-05-24T11:14:04","modified_gmt":"2023-05-24T11:14:04","slug":"diagnosing-mps-vi","status":"publish","type":"page","link":"https:\/\/hcp.biomarin.com\/en-us\/naglazyme\/diagnosing-mps-vi\/","title":{"rendered":"Diagnosing MPS VI"},"content":{"rendered":"<div id=\"acf-block-6419c91531719\" class=\"block wrapped-content block-tight-top block-tight-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6419c91531787\" class=\"block-wysiwyg\">\n            <h1>Diagnosing MPS VI<\/h1>\n<h2>Diagnosis of MPS VI is usually prompted through clinical presentation.<sup>1<\/sup><\/h2>\n<p>Elevated urinary glycosaminoglycan levels suggest a mucopolysaccharidosis disorder.<sup>1<\/sup> MPS VI is diagnosed by testing arylsulfatase B (ASB) activity in blood or fibroblasts. MPS VI is confirmed when ASB enzyme activity in the leukocytes or fibroblasts is determined to be low as judged against a reference enzyme and the laboratory\u2019s own reference ranges.<sup>2<\/sup><\/p>\n<h3>When to suspect MPS VI<\/h3>\n<p>Because patients with MPS VI present with a variety of signs and symptoms, it is essential to maintain a high index of suspicion and pay close attention to the medical history.<sup>3<\/sup> Suspicious signs and symptom clusters may include<sup>3<\/sup>:<\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6419c915317ba\" class=\"block split-content equal-bias bottom-border block-tight-top block-tight-bottom\" data-muted-autoplay=\"false\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t                                                                <div class=\"content-block first-block\">\n                                                                                                <ul>\n<li>Macrocephaly<\/li>\n<li>Short stature<\/li>\n<li>Enlarged tonsils and adenoids<\/li>\n<li>Impaired vision<\/li>\n<li>Difficulty swallowing<\/li>\n<li>Umbilical or inguinal hernias<\/li>\n<li>Heart murmur<\/li>\n<\/ul>\n                                                                                    <\/div>\n                    \n                                            <div class=\"content-block second-block\">\n                                                                                                <ul>\n<li>Dysmorphic facial features<\/li>\n<li>Enlarged tongue<sup>4<\/sup><\/li>\n<li>Corneal clouding<\/li>\n<li>Short neck<\/li>\n<li>Noisy breathing<\/li>\n<li>Sinopulmonary infections<\/li>\n<li>Valve disease<\/li>\n<\/ul>\n                                                                                    <\/div>\n                                                \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-6419c915317d9\" class=\"block wrapped-content block-tight-top block-tight-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6419c9153180f\" class=\"block-wysiwyg\">\n            <h3>Refer Promptly<\/h3>\n<p>Once a clinical suspicion has been raised, all patients with suspected MPS VI should be referred promptly to a geneticist for definitive diagnosis and appropriate counseling.<sup>5<\/sup><\/p>\n<h3>Benefits of early diagnosis<\/h3>\n<p>When MPS VI is recognized promptly and patients are carefully managed, its harmful effects may be minimized. That\u2019s because early diagnosis of MPS VI can allow for early treatment that optimizes the potential benefits of enzyme replacement therapy with NAGLAZYME<sup>\u00ae<\/sup> (galsulfase).<sup>1<\/sup> In clinical trials, NAGLAZYME has been shown to improve walking and stair\u2010climbing.<sup>7<\/sup> This improvement can be maintained with long\u2010term therapy. A study that measured the 6\u2010minute walk test in patients with MPS VI, many of whom had been on NAGLAZYME therapy for a long time (an average of 6.8 years), showed that improvements in endurance lasted when patients kept taking NAGLAZYME.<sup>8 <\/sup><\/p>\n<p><a class=\"nxt_page\" href=\"https:\/\/hcp.biomarin.com\/en-us\/naglazyme\/mps-vi-management\/\">Learn more about the long-term efficacy of NAGLAZYME \u00bb<\/a><\/p>\n<h3>The dangers of delayed diagnosis<\/h3>\n<p>Both the slowly and rapidly progressing forms of MPS VI result in significant declines in physical functioning and well-being, as well as a shortened lifespan.<sup>1<\/sup> A 2018 literature review found the median delay in diagnosis for patients with MPS VI was 4.7 years.<sup>9<\/sup><\/p>\n<p>Once multisystemic damage occurs, it cannot be reversed<sup>1<\/sup>. Treatment, however, may help to restore endurance and slow the rate of disease progression.<sup>6,7<\/sup><\/p>\n<h3>Growth and skeletal abnormalities are common in undiagnosed MPS VI<\/h3>\n<ul>\n<li>Accelerated growth in infancy coupled with advanced bone maturation is often followed by slowing growth in the first few years of life and short stature<sup>10<\/sup><\/li>\n<li>Final height may range from extreme to mild short stature<sup>10<\/sup><\/li>\n<li>MPS disorders have a common radiological expression known as dysostosis multiplex that involves almost all of the bony skeleton<sup>11<\/sup><\/li>\n<\/ul>\n<h3>Cardiac abnormalities: also common in MPS VI<sup>1<\/sup><\/h3>\n<p>Cardiac disorders are common in MPS VI and a frequent cause of morbidity and mortality.<\/p>\n<ul>\n<li>Cardiac disorders most commonly manifest as progressive valve degeneration with stenosis or insufficiency<\/li>\n<li>Other manifestations include:\n<ul>\n<li>Electrocardiographic abnormalities<\/li>\n<li>Systemic vascular narrowing and hypertension<\/li>\n<li>Endocarditis<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p><a href=\"https:\/\/hcp.biomarin.com\/en-us\/naglazyme\/mps-vi-patient-care\/\">Learn more about caring for patients with MPS VI \u00bb<\/a><\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6419c9153185c\" class=\"block references\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t    \t\t\t    <h4>References:\n<\/h4>\n\t\t\t\t\t\t                <ol>\n                                                                                                                        <li><span>Akyol MU, Alden TD, Amartino H, <em>et al<\/em>. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. <em>Orphanet J Rare Dis<\/em>. 2019;14:118.\n<\/span><\/li>\n                                                                                                                                                <li><span>Wood T, Bodamer OA, Curin MG, D\u2019Almeida V, <em>et al<\/em>. Expert recommendations for the laboratory diagnosis of MPS VI. <em>Mol Genet Metab<\/em>. 2012;106(1):73-82.\n<\/span><\/li>\n                                                                                                                                                <li><span>Wilcox WR. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. <em>J Pediatr.<\/em> 2004;144(5 suppl):S3-S14.\n<\/span><\/li>\n                                                                                                                                                <li><span>Alpoz AR, \u00c7oker M, \u00c7elen E, et al. The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;101(5):632-637\n<\/span><\/li>\n                                                                                                                                                <li><span>Harmatz PR. Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Medscape website. https:\/\/emedicine.medscape.com\/article\/946474-overview. Updated March 20, 2017. Accessed May 2023.\n<\/span><\/li>\n                                                                                                                                                <li><span>Harmatz P, Giugliani R, Schwartz I, <em>et al<\/em>. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. <em>J Pediatr.<\/em> 2006;148(4):533-539.\n<\/span><\/li>\n                                                                                                                                                <li><span>NAGLAZYME [package insert]. Novato, CA: BioMarin Pharmaceutical Inc; 2019.\n<\/span><\/li>\n                                                                                                                                                <li><span>Giugliani R, Lampe C, Guffon N, <em>et al<\/em>. Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)\u201310-year follow-up of patients who previously participated in an MPS VI Survey Study. <em>Am J Med Genet A<\/em>. 2014;164A(8):1953-1964. doi: 10.1002\/ajmg.a.36584.\n<\/span><\/li>\n                                                                                                                                                <li><span>Clarke L, Ellaway C, Foster HE, <em>et al<\/em>. Understanding the early presentation of mucopolysaccharidoses disorders: results of a systematic literature review and physician survey. <em>J Inborn Errors Metab Screen<\/em>. 2018;6:1-12 (supplemental file).\n<\/span><\/li>\n                                                                                                                                                <li><span>Heron D, Baumann C, Benichou JJ, Harpey JP, Le Merrer M. Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation. <em>Eur J Pediatr<\/em>. 2004;163(6):323-326.\n<\/span><\/li>\n                                                                                                                                                <li><span>White KK. Orthopaedic aspects of mucopolysaccharidoses. <em>Rheumatology<\/em>. 2011;50(suppl 5):v26-v33.\n<\/span><\/li>\n                                                            <\/ol>\n\t\t\t\t\t<\/div>\n\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":4,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-97","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Naglazyme HCP | Diagnosing MPS VI<\/title>\n<meta name=\"description\" content=\"Diagnosis of MPS VI is usually prompted through clinical presentation.1 Elevated urinary glycosaminoglycan levels suggest a mucopolysaccharidosis disorder.1\" \/>\n<meta name=\"robots\" content=\"index, follow, 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