My most memorable MPS II diagnosis, Anna Tylki-Szymanska

Real life experience is essential for the diagnosis and management of MPS II. Here, Professor Anna Tylki-Sysmanska shares one of the most rewarding case studies from her career. Starting with a hernia surgery, analysis of the family provided some crucial insights into Professor Tylki-Sysmanska’s patient in this fascinating video.

The mucopolysaccharidosis (MPS) diseases are a group of rare, genetic, metabolic disorders. All MPS diseases are inherited in a recessive pattern, meaning that some people might be carriers of the disease but are unaffected. MPS II is different from the other MPS diseases because its inheritance is X-linked, meaning that males are almost exclusively affected.1

People with MPS do not have enough, or any, of an enzyme that is needed to break down a sugar, called a mucopolysaccharide or glycosaminoglycan (GAG). As a result, GAGs build up throughout the body and can cause damage to cells.1

There are seven types of MPS disease that each lack different enzymes required to break down GAGs. All of the MPS disorders are progressive, meaning they worsen with time. They are also all heterogeneous, meaning that they can affect different people differently, often resulting in a spectrum of clinical severity from mildly to severely affected.1

For more information on Hunter syndrome (MPS II), please visit http://www.huntersyndrome.info/

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.

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C-ANPROM/INT//5626 May 2019

References:
1. Scarpa M et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis 2011; 6: 72.

Видео My most memorable MPS II diagnosis, Anna Tylki-Szymanska канала Hunter Syndrome