People with MPS usually experience respiratory difficulties and often need careful management of symptoms. Specific features for each MPS disease are below.
Lungs
MPS I Hurler, Hurler-Scheie and Scheie
Hurler disease
Children with Hurler disease experience problems with breathing normally because of the shape and stiffness of the ribcage. Normally the ribs are curved and between the ribcage and breastbone there is flexibility for the chest to move freely. In Hurler disease the ribs are straight and there is limited flexibility between the ribcage and breastbone which means the chest cannot move freely to allow the lungs to take in a large volume of air. Additionally, the tissue of the lungs becomes thickened by stored mucopolysaccharides and stiffer than usual. This leads to an increase in secretions which are harder to clear as the restricted lungs make it difficult to take a deep enough breath to cough properly. When the lungs are not fully cleared there is an increased risk of infection which can lead to scarring causing further obstruction.
Children with Hurler disease can experience frequent coughs, colds and throat infections. The tonsils and adenoids often become enlarged and can partly block the airway, often an option is to have them removed. The passage behind the nose is smaller than usual due to poor growth of the bones in the mid-face and the neck is usually short. The windpipe becomes narrowed by stored mucopolysaccharides and is often more floppy or softer than usual. All these changes can lead to the nose becoming easily blocked resulting in constant discharge of clear mucus from the nose and sinus infections.
Hurler-Scheie and Scheie disease
People with Hurler-Scheie and Scheie disease can be relatively unaffected. Treatments such as Enzyme Replacement Therapy (ERT) can have a positive effect on managing coughs, colds and throat infections.
MPS II Hunter
Normally the ribs are curved and between the ribcage and breastbone there is flexibility for the chest to move freely. In MPS II the chest cannot move freely to allow the lungs to take in a large volume of air because the ribs are straight and there is limited flexibility between the ribcage and breastbone. The muscles at the base of the chest may be pushed upwards by an enlarged liver and spleen, further reducing the space for the lungs. Additionally, the tissue of the lungs becomes thickened by stored mucopolysaccharides and stiffer than usual. This leads to an increase in secretions which are harder to clear as the restricted lungs make it difficult to take a deep enough breath to cough properly. When the lungs are not fully cleared there is an increased risk of infection which can lead to scarring causing further obstruction.
Typically, the bridge of the nose is flattened and the passage behind the nose is smaller than usual due to poor growth of the bones in the mid-face. The combination of abnormal bones and storage of mucopolysaccharides in the soft tissues in the nose and throat can cause the nose to become easily blocked. One of the common features of children with MPS II is the chronic discharge of clear mucus from the nose and developing sinus infections. Frequent coughs, colds and throat infections are common problems for many people with MPS II. People will have narrowing of the large airways and increased secretions which can lead to ‘asthma-like’ episodes. Many people with MPS II are helped by treatment of asthma medication during viral illness and some may breathe very noisily, even when there is no infection. At night they may be restless and snore. Removal of tonsils and adenoids may help in some cases to lessen the obstruction and make breathing easier, but adenoid tissue may grow back.
Medication for controlling cough and cold symptoms and mucus production is available but it is essential to consult the doctor rather than using ‘over the counter’ medication which may not help. Medications such as antihistamines may dry out the mucus making it thicker and harder to dislodge. Decongestants usually contain stimulants that can raise blood pressure and narrow blood vessels, both are undesirable effects for people with MPS II. Cough medicines that have a sedating effect may cause more problems with sleep apnoea by depressing muscle tone and respiration. It is common for people with MPS II to develop secondary bacterial infections which should be treated with antibiotics.
Some people with MPS II may experience sleep apnoea this is where the person stops breathing for short periods during sleep. A night-time Continuous Positive Airway Pressure (CPAP) may be recommended to improve the quality of sleep as well as help prevent or reduce the risk of heart failure caused by low oxygen levels at night.
The windpipe (trachea) becomes narrowed by storage material and is often more floppy, or softer than usual due to abnormal cartilage rings in the trachea. Nodules of tissue can further block the airway making swallowing difficult.
MPS III Sanfilippo
Many children with MPS III have frequent colds, blocked noses and chest infections. Typically, the bridge of the nose is flattened and the passage behind the nose is smaller than usual due to poor growth of the bones in the mid-face. The combination of abnormal bones and storage of mucopolysaccharide in the soft tissues in the nose and throat can cause the nose to become easily blocked. Some children with MPS III can have chronic discharge of clear mucus from the nose and developing sinus infections, the severity depends on the individual child.
Medication for controlling cough and cold symptoms and mucus production is available but it is essential to consult the doctor rather than using ‘over the counter’ medication which may not help. Medications such as antihistamines may dry out the mucus making it thicker and harder to dislodge. Decongestants usually contain stimulants that can raise blood pressure and narrow blood vessels, both are undesirable effects for people with MPS III. Cough medicines that have a sedating effect may cause more problems with sleep apnoea by depressing muscle tone and respiration. It is common for people with MPS III to develop secondary bacterial infections which should be treated with antibiotics.
Children with MPS III may breathe very noisily, even when there is no infection and at night, they may be restless and snore. Some children may experience sleep apnoea this is where they stop breathing for short periods during sleep. A night-time Continuous Positive Airway Pressure (CPAP) may be recommended to improve the quality of sleep as well as help prevent or reduce the risk of heart failure caused by low oxygen levels at night. In severe cases of sleep apnoea with heart failure a tracheostomy, which is a hole in the airway made in front of the neck, may be recommended.
The neck is usually short which contributes to the problems in breathing, in addition the tonsils and adenoids often become enlarged and can partly block the airway making it difficult to eat or swallow.
Advice for professionals
We want to give you the tools to be able to learn about MPS, Fabry and related diseases in order for children with the condition to receive a faster diagnosis.
MPS IV Morquio
In MPS IV the growth of the spine is affected this is because the breastbone is joined to the spine by the ribs. The breastbone continues to grow normally but it is forced to buckle outwards in a rounded curve or sometimes in a prominent beak shape. The chest is bell-shaped and the ribs are held fixed causing restriction of optimum breathing, for some people the trachea continues to grow whilst the neck region (cervical spine) does not.
As people with MPS IV grow they can struggle to maintain an open airway which leads to breathing difficulties, they may need to tilt their heads backwards to prevent the blocking of the airway. This may mean that some do not cope well with chest infections. In older teenagers and adults, the heart and lungs are squashed within the area between the head and tummy (abdomen). This can lead to restrictive respiratory failure which is a difficult complication to manage so it is important to treat additional chest problems, such as infections seriously.
Medication for controlling cough and cold symptoms and mucus production is available but it is essential to consult the doctor rather than using ‘over the counter’ medication which may not help. Medications such as antihistamines may dry out the mucus making it thicker and harder to dislodge. Decongestants usually contain stimulants that can raise blood pressure and narrow blood vessels, both are undesirable effects for people with MPS VI. Cough medicines that have a sedating effect may cause more problems with sleep apnoea by depressing muscle tone and respiration. It is common for people with MPS IV to develop secondary bacterial infections which should be treated with antibiotics.
MPS VI Maroteaux-Lamy
The movement of the lungs is restricted by the shape of the chest preventing the lungs to take in a large volume of air. The tissue of the lungs becomes thickened from storage of mucopolysaccharides and is stiffer than usual. There is an increase in secretions which are harder to clear as the restricted lungs make it difficult for people with MPS VI to take a deep enough breath to cough properly. When the lungs are not fully cleared there is an increased risk of infection which can lead to scarring of the airways causing further obstruction. Children with MPS VI are prone to frequent chest infections and tend to have runny noses.
Medication for controlling cough and cold symptoms and mucus production is available but it is essential to consult the doctor rather than using ‘over the counter’ medication which may not help. Medications such as antihistamines may dry out the mucus making it thicker and harder to dislodge. Decongestants usually contain stimulants that can raise blood pressure and narrow blood vessels, both are undesirable effects for people with MPS VI. Cough medicines that have a sedating effect may cause more problems with sleep apnoea by depressing muscle tone and respiration. It is common for children with MPS VI to develop secondary bacterial infections which should be treated with antibiotics.
Children with MPS VI may breathe very noisily, even when there is no infection and at night, they may be restless and snore. Some children may experience sleep apnoea this is where they stop breathing for short periods during sleep. A night-time Continuous Positive Airway Pressure (CPAP) may be recommended to improve the quality of sleep as well as help prevent or reduce the risk of heart failure caused by low oxygen levels at night.
MPS VII Sly
Normally the ribs are curved and between the ribcage and breastbone there is flexibility for the chest to move freely. In MPS VII the chest cannot move freely to allow the lungs to take in a large volume of air because the ribs are straight and there is limited flexibility between the ribcage and breastbone. The muscles at the base of the chest may be pushed upwards by an enlarged liver and spleen, further reducing the space for the lungs. Additionally, the tissue of the lungs becomes thickened by stored mucopolysaccharides and stiffer than usual. This leads to an increase in secretions which are harder to clear as the restricted lungs make it difficult to take a deep enough breath to cough properly. When the lungs are not fully cleared there is an increased risk of infection which can lead to scarring causing further obstruction.
Typically, the bridge of the nose is flattened and the passage behind the nose is smaller than usual due to poor growth of the bones in the mid-face. The combination of abnormal bones and storage of mucopolysaccharides in the soft tissues in the nose and throat can cause the nose to become easily blocked. One of the common features of children with MPS VII is the chronic discharge of clear mucus from the nose and developing sinus infections. Frequent coughs, colds and throat infections are common problems. The tonsils and adenoids often become enlarged and can partly block the airway, removal of tonsils and adenoids may help in some cases to lessen the obstruction and make breathing easier.
Medication for controlling cough and cold symptoms and mucus production is available but it is essential to consult the doctor rather than using ‘over the counter’ medication which may not help. Medications such as antihistamines may dry out the mucus making it thicker and harder to dislodge. Decongestants usually contain stimulants that can raise blood pressure and narrow blood vessels, both are undesirable effects for people with MPS VII. Cough medicines that have a sedating effect may cause more problems with sleep apnoea by depressing muscle tone and respiration. It is common for people with MPS VII to develop secondary bacterial infections which should be treated with antibiotics.
The windpipe (trachea) becomes narrowed by storage material and is often more floppy, or softer than usual due to abnormal cartilage rings in the trachea. Nodules of tissue can further block the airway making swallowing difficult.
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