Hunter syndrome Info

MPS II (Hunter syndrome) is one of 11 mucopolysaccharidoses (MPS) diseases: a group of rare, genetic, metabolic disorders. In this episode, Professor Roberto Giugliani (Department of Genetics of the Federal University of Rio Grande do Sul and Chief of the Medical Genetics Service of Hospital de Clinicas de Porto Alegre, Brazil) discusses the pitfalls of recognising MPS II, a rare and progressive disease. MPS II is difficult to diagnose due to the large heterogeneity in clinical presentations and symptom overlap with common childhood complaints; Professor Giugliani highlights key red flag symptoms for healthcare professionals to be aware of that might prompt clinical suspicion of an MPS disorder. He describes the current diagnostic methods used, including urinary GAG testing, enzyme assays and genetic testing, and discusses the future of GAG testing. He describes the referral network in Brazil as an example to promote earlier referral for testing and earlier diagnosis. This podcast series was initiated, organised and funded by Takeda and is intended for a global healthcare professional audience (ex US, ex UK). Professor Giugliani has received honoraria for this podcast. The views in this episode are those of the speaker, and not necessarily those of Takeda. This information is available for information purposes only; it should not be used for diagnosing or treating a health problem or disease. It is not intended to substitute consultation with a healthcare provider. Please consult a healthcare provider for further advice.

In this episode we are joined by three experts: Dr Lampe (MPS specialist, University of Giessen, Germany), Professor Akyol (Professor of Otorhinolaryngology at Hacettepe University, Ankara, Turkey) and Professor Scarpa (Director, Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy). Together, our experts explore the challenges of diagnosing MPS II and the crucial role awareness of the early signs and symptoms among physicians plays in early diagnosis. This podcast series was initiated and funded by Takeda and is intended for a global healthcare professional audience (ex UK, ex US). The speakers have received honoraria for this podcast. The views in this episode are those of the speakers, and not necessarily those of Takeda. This information is available for information purposes only; it should not be used for diagnosing or treating a health problem or disease. It is not intended to substitute for consultation with a healthcare provider. Please consult a healthcare provider for further advice.

MPS II (Hunter syndrome) is one of 7 clinical types of mucopolysaccharidoses (MPS) diseases: a group of rare, genetic, metabolic disorders. In this episode, Dr Lampe (Centre for Rare Diseases, Geissen University Hospital, Germany), discusses the practicalities of achieving an earlier MPS II diagnosis – a crucial challenge towards improved disease management. Dr Lampe shares 12 years of experience in the field of MPS, covering exactly how MPS II impacts the quality of life of patients and their families. Ultimately, Dr Lampe explains the combination of symptoms that can prompt an earlier suspicion of MPS II, and how this can unlock appropriate disease management and patient support. This podcast series was initiated, organised and funded by Takeda and is intended for a global healthcare professional audience (excluding US and the UK).

Mucopolysaccharidosis type II (MPS II) is a rare genetic disorder that can impact the nervous, cardiovascular, respiratory, and musculoskeletal systems. This progressive multisystemic pathology requires a multidisciplinary approach involving a number of specialists with knowledge of the idiosyncrasies of MPSII. In this podcast, we hear from specialists in the MPS field, who share their experience and best practice for minimising surgical risks in MPS II patients.

Mucopolysaccharidosis type II (MPSII) is a rare genetic disorder that can impact the nervous, cardiovascular, respiratory, and musculoskeletal systems. This progressive multisystemic pathology requires a multidisciplinary approach involving a number of specialists with knowledge of the idiosyncrasies of MPSII. In this podcast we hear from specialists in the MPS field, who have implemented this approach in their own patients, about their experiences of managing MPSII.

MPS II is one of 7 mucopolysaccharidoses (MPS) diseases. It is a rare genetic metabolic disease, caused by a variety of possible mutations. MPS II can be inherited in an X-linked recessive pattern from mother to child or by de novo mutation. This means that a number of MPS II patients can present with a family history of the disorder. In this episode, our panel discuss the importance of assessing family history to decrease the diagnostic delay for MPS II. Learn about the benefits and challenges of assessing family history from the case studies of experts in the field: Professor Roberto Giugliani (Medical Genetics Service of Hospital de Porto Alegre, Brazil), Professor Anna Tylki-Szymanska (The Children’s Memorial Health Institute, Warsaw) and Professor Maurizio Scarpa (Udine University Hospital, Italy). This podcast series was initiated, organized and funded by Takeda Pharmaceutical Company Limited, and has been developed for an international HCP audience (outside the US and UK).

Learn more about this rare, genetic disease

ENTs are among the most likely physicians to recognise the early signs and symptoms of Hunter syndrome.

Hunter syndrome patients often face a long journey to diagnosis. Prof Joseph Muenzer and Prof Chris Hendriksz discuss the diagnostic challenges of living with a rare disease and the importance of early referral to optimise management of this rare, progressive disorder. This podcast series was initiated and funded by Shire and is intended for a global healthcare professional audience. (c) Shire C-ANPROM/INT//2692 March 2018

Professor Joseph Muenzer, an expert in MPS diseases, introduces the basics of MPS diseases. This podcast was initiated and funded by Shire and has been developed for an international HCP audience.