Dr Christina Lampe: A career in MPS diagnosis and management

With over 12 years of experience in the mucopolysaccharidosis (MPS) field, Dr Christina Lampe has developed a network of specialists who refer MPS II patients to her center for diagnosis and management. Originally a surgeon by training, Dr Lampe uses her first experience with an MPS II patient to explain why she chose to pursue a career with MPSs.

Dr Lampe explains the opportunities to improve the quality of life of MPS II patients. By informing yourself about the disease, liaising with specialist centers and building a network of specialists, more patients can be detected and appropriately managed.
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 of an enzyme that is needed to break down a specific type of 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 clinical types of MPS disease that each lack a different enzyme 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 resources mentioned and the information found on this channel is not exhaustive, and is not intended to diagnose or advise about 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/HUNS/0037 November 2020
Takeda Pharmaceutical Company Limited. All rights reserved.
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.

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