The Yin and Yang of Diagnosing MPS II: Suspecting and Testing presented by Professor Giugliani

Professor Roberto Giugliani is a professor at the Department of Genetics of the Federal University of Rio Grande do Sul (UFRGS) and Chief of the Medical Genetics Service of Hospital de Clinicas in Porto Alegre, Brazil. In this webinar, Professor Giugliani talks through case studies, current testing and future directions of diagnostic testing for MPS II.

Hunter syndrome, or MPS II, is a rare disease with a prevalence of just 0.37 per 100,000 people.¹


Many healthcare professionals (HCPs) may see patients with coughs and colds, but fail to see the red flags which could lead to early detection of MPS II. Patients are often not diagnosed with MPS II for many years, and as a result experience permanent worsening of the condition, which could have been ameliorated with earlier intervention.
MPS II is an X-linked recessive disorder.² This means that it is predominantly found in male children, but the disease is passed down the female line, and therefore maternal family history is relevant.²
MPS can be found as a mild, or non-neuropathic, phenotype which has physical symptoms with no central nervous system (CNS) involvement; or as a severe or neuropathic phenotype which involves both somatic symptoms and the CNS.²
The cause of MPS II is an enzyme deficiency of iduronate-2-sulfatase and, as a result, the glycosaminoglycans (GAGs) dermatan sulphate and heparin sulphate build-up within lysosomal cells.³
MPS II is a multisystemic disease, with neurological, musculoskeletal, gastrointestinal, ear nose and throat, or cardiovascular symptoms. There is no set checklist of symptoms, therefore the combination of symptoms, along with a history of multiple surgeries, must serve as the basis for suspicion of MPS II and referral for testing.³
Current diagnostic and test procedures in Brazil include guidelines established by the MPS Brazil Network. The testing pathway involves, after initial suspicion, urine GAG testing to determine the type of MPS involved, followed by blood testing to confirm the specific enzyme deficiency. A novel urine assay permits the diagnosis of 10 MPS subtypes within a single test with great specificity and sensitivity.⁴


For more information on MPS II (also known as Hunter Syndrome), please visit http://www.huntersyndrome.info/hcp


The information found on this channel is not exhaustive, and is not intended to diagnose or advise in the treatment of any illness or disease. This information should not be used in place of advice from your general practitioner or other healthcare professional. If in doubt, please contact your doctor for advice.

For more information about upcoming webinars, please visit: http://www.huntersyndrome.info/hcp

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C-ANPROM/INT/HUNS/0084 December 2020



References:
1. Federhen A et al. Am J Med Genet A. 2020;182(3):469–483
2. Muenzer J. Rheumatology (Oxford). 2011;50(5):v4–v12
3. Burton BK, Giugliani R. Eur J Pediatr. 2012;171(4):631–639
4. Saville JT et al. Genet Med. 2019;21:53–757