It is important that you consult with your medical practitioner regularly to monitor the progression of the disorder and enable various treatment options to be explored. Some common medical problems for individuals with MPS I fall into the following categories. This list is not exhaustive.  Click on the headings below or scroll down to read all sections.

• ENT and chest

• Heart
• Eyes
• Joints
• Anaesthesia

ENT problems can include: constant runny nose, enlarged tonsils and adenoids, deafness and airway obstruction which can develop into sleep apnoea. Many ENT problems can be treated effectively.  

Surgery to remove tonsils and adenoids and insert grommets is common in MPS I patients.  

Some degree of deafness is also common. Hearing loss may be conductive or nerve deafness or both (mixed deafness) and may be made worse by frequent ear infections. It is important for all MPS I children to have their hearing monitored regularly and for problems to be treated early to maximise the child's ability to learn and communicate. Nerve deafness is managed by the fitting of a hearing aid or aids. There are also adaptations to enable the hearing aid wearer to hear the class teacher, the television or telephone conversations more clearly. Details are available from the Australian Hearing Service.  

Individuals diagnosed with sleep apnoea as a result of a sleep study may benefit from CPAP (continuous positive airway pressure). At night while the child or adult is sleeping, a CPAP machine which uses a mask over the lower face or a short tube, delivers air at a small positive pressure. It is often surprisingly well tolerated even in young children and improved sleep seems to help children's daytime concentration.

Heart Conditions

Heart disease is common in MPS I but may not develop or cause any real problems until later in the child's life. In severely affected individuals the muscle of the heart may be damaged by storage of mucopolysaccharides (cardiomyopathy) and the heart may also be put under strain by having to pump blood through stiffened and inefficient lungs (cor pulmonale). As heart defects occur so frequently in MPS I, all children should have a test known as an echocardiogram to show whether this is happening. The test is painless, rather like an ultrasound.

Eye Conditions

All individuals with MPS I have corneal clouding. The circular "windows" at the front of the eye (cornea) become cloudy due to storage of mucopolysaccharides. If corneal clouding is severe it may reduce sight, especially in dim light. Some children cannot tolerate bright lights as the clouding causes uneven refraction of the light. Wearing peaked caps or sunglasses can help this. Some individuals with Hurler/Scheie or Scheie syndrome may benefit from corneal grafting.

Joint Stiffness and Loss of Feeling

Joint stiffness is common in all forms of the syndrome.  All the joints become stiff and movement may become limited. The limited movement in the shoulders and arms may make many activities including hair combing and toileting difficult.

Anaesthetics for those with MPS I

Anaesthesia Any surgery for individuals with MPS I should not be undertaken lightly. Giving an anaesthetic to an individual with MPS I is a skilled task which should always be undertaken by an experienced anaesthetist. Adult sufferers should ideally wear some sort of identification bracelet with a contact medical person in case of emergency. With children, parents should inform their child's school and any person who looks after the child in case they cannot be contacted in an emergency. If you have to go to a different hospital in an emergency you should tell the anaesthetist that there might be problems with intubation. The MPS Society has more information on this important subject. 

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