Simplifying Therapy for MPS IIDiplomat Specialty Infusion Group supports patients throughout treatment.
MPS II, also called Hunter Syndrome, is an inherited disorder caused by low or absent levels of an enzyme called iduronate 2-sulfatase. Without enough of this enzyme, the body is unable to break down certain sugar molecules in the body, called glycosaminoglycans (GAGs). This causes GAGs to build to toxic levels in cells throughout the body, keeping various organ systems from functioning and developing normally. This can include bones, joints, brain, spinal cord, heart, spleen, or liver.
MPS II occurs almost exclusively in males — approximately one in 100,000 to one in 170,000. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.
MPS II is generally divided into two forms: non-neuronopathic and neuronopathic. The non-neuronopathic form usually results in limited or no intellectual impairment. In the neuronopathic form, intellectual impairment may be seen in early childhood. Physical symptoms affecting organs and tissue are similar in both forms of the condition, though sometimes at a reduced severity in the non-neuronopathic form.
GAGs were originally called mucopolysaccharides, which is where this condition gets its name.
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What causes MPS II?
MPS II is an X-linked genetic condition, so it occurs almost exclusively in males. To have the condition, a child inherits one copy of the altered MPS II gene (IDA). The IDA gene controls production of the iduronate 2-sulfatase enzyme. The lack of enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS II, are called lysosomal storage disorders.
You can’t catch MPS II from someone, and you don’t get it from foods you eat or substances in your environment.
What are the symptoms of MPS II?
Symptoms of MPS II vary depending on the type of MPS II, age of onset, when a child is first treated, and how they respond to treatment.
In the neuronopathic form of MPS II, physical and intellectual development usually slows or stops between the ages of two and four, and they can begin to regress between the ages of six to eight. Non-neuropathic MPS II does not cause the same intellectual impairments. Other physical and systemic symptoms are similar to the neuronopathic form, though sometimes not as severe.
Individuals with MPS II may have distinctive facial features (sometimes described as "coarse"); a large head; short neck; broad chest; a buildup of fluid in the brain; heart valve abnormalities; and an enlargement of the liver, spleen, tongue, lips, and nostrils. Vocal cords can also enlarge, resulting in a deep, hoarse voice. The airway may become narrow in some people with MPS II, causing frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea).
People with MPS II usually have thick skin that is not very stretchy. Some affected individuals also have distinctive white skin growths that look like pebbles. Most people with this disorder develop hearing loss and have recurrent ear infections. Some individuals with MPS II develop problems with the light-sensitive tissue in the back of the eye (retina) and have reduced vision.
Most people with MPS II have growth delays and multiple skeletal abnormalities. This can result in short stature and joint stiffness that affect mobility. Some develop carpal tunnel syndrome. Narrowing of the spinal canal in the neck can compress and damage the spinal cord, though it is less common in this form of MPS than others.
How does Diplomat help people with MPS II?
The treatment for MPS II is called enzyme replacement therapy, or ERT. This therapy is administered by intravenous infusion — put directly into a vein every 2 weeks. While there is no cure for MPS II, ERT can make the condition more manageable.
Diplomat Specialty Infusion Group provides home infusion therapy for individuals with MPS II. We can help coordinate in-home nursing services as well.
To alleviate symptoms of MPS II, doctors may recommend other treatments and supportive devices, or refer patients to various specialists.
What resources are available for people with MPS II?
Remember: The information here — and on linked sites — is not meant to replace advice, care, or a diagnosis from your physician. If you have questions about your condition, please ask your provider.
The information contained herein may not be construed as medical advice. It is for educational purposes only. Diplomat Pharmacy Inc. takes no responsibility for the accuracy or validity of the information contained herein, nor the claims or statements of any manufacturer.
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