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The mucopolysaccharidosis (MPS) diseases are rare genetic disorders present from birth, but newborns may show no symptoms of the disease. The symptoms of MPS diseases often appear in early childhood and worsen over time, leading to possible organ failure and reduced life expectancy. Diagnosis of MPS diseases is often delayed because there is no specific checklist of MPS symptoms to go by – instead, the symptoms and severity of the MPS disease are variable and can differ from patient to patient, and there is a wide range of symptoms that may affect many different parts of the body, including the airways, ears, facial features, skeleton and joints, eyes, liver, heart and, in some cases, the brain. With the symptoms of a disease such as MPS being so broad, many families find themselves chasing the signs of MPS in order to achieve a diagnosis. It is often the combination of MPS symptoms which signals to a diagnosis of an MPS disease.
By raising awareness of the possible combinations of symptoms of MPS diseases, we can help parents and doctors #ChaseTheSigns of MPS underlying the symptoms seen, to arrive at a diagnosis as early as possible and to provide support to those affected.
By raising awareness on MPS Awareness Day, you can help individuals get access to the care and support systems that they need.
People with MPS diseases lack an enzyme in their lysosomes, which usually breaks down complex molecules, known as GAGs (glycosaminoglycans), into smaller parts to be recycled (lysosomes are small pockets within cells, which recycle molecules that the cell no longer needs). Without this enzyme, these GAGs accumulate in the cells of patients with MPS, which eventually build up and lead to organ damage and the related symptoms of MPS. The MPS diseases are a type of ‘lysosomal storage disease’. There are seven clinical types of MPS disease; one example is MPS II, which is also known as Hunter syndrome. All MPS diseases are genetic disorders, meaning they can be inherited from parents—parents are often ‘carriers’ of the disease, meaning they possess the MPS gene but do not show symptoms. MPS II is slightly different because it mainly affects boys (although a very small number of MPS II girls have been reported worldwide) and the mother is almost always the carrier—as a result, male relatives on the mother’s side of the family may also have MPS II.
Knowing the signs and symptoms of MPS diseases can markedly improve the identification, diagnosis and early management of individuals living with MPS. As we saw above with Arian’s story, many of the MPS II symptoms can go unnoticed as they resemble common childhood complaints, and it is often only a combination of MPS II symptoms which signals an MPS diagnosis. MPS II is also hard to recognise because the number and types of symptoms vary significantly from patient to patient.
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For more information on MPS II (Hunter syndrome)