Symptom-Based Management

Therapies for Managing Symptoms

Careful use of symptom-based disease management can play an important role in maintaining quality of life for individuals with MPS VI. In some cases, careful monitoring and treatment may prevent permanent damage.

Examples of some of the symptom-based therapies that people with MPS VI may benefit from are provided below.

Brain and Nerves

If a person with MPS VI develops hydrocephalus (high pressure in the fluid in the brain), the pressure can be alleviated by surgical placement of a ventriculoperitoneal (VP) shunt in the head. A shunt is essentially a pressure valve that drains extra fluid from the brain to reduce the pressure. Relieving the pressure of hydrocephalus can prevent blindness or other permanent brain damage.¹

Surgery can also relieve constriction and compression around the spinal cord where it passes through the neck or at other levels of the spinal cord. This can alleviate weakness, paralysis, or spasticity that develops in the arms and legs—and, once again, can prevent permanent damage.¹

People with MPS VI also sometimes develop carpal tunnel syndrome—the same nerve compression injury that people who type on computer keyboards sometimes develop. Surgery can release pressure on the compressed nerves and help restore hand function.²

Vision

A person with MPS may receive a corneal transplant, replacing the cloudy cornea with a clear one with the goal of improving vision.²

Hearing

Given the frequency of hearing loss in MPS VI, regular hearing tests can determine when an individual might benefit from a hearing aid.²

A minor procedure to place ventilation tubes in the ears can also help reduce the long-term impact of ear infections, and possibly prevent or delay hearing loss.²

Teeth

Consistent dental care is important for individuals with MPS VI. This includes oral surgery to help new teeth emerge from the gums correctly and remove teeth that are coming in incorrectly.³

Proper dental care can help maintain quality of life, but it is actually more important than just that: by preventing oral infections, it actually decreases the risk of a serious heart complication called bacterial endocarditis, in which a bacterial infection reaches the heart.³

Breathing and Airways

Breathing problems caused by a narrowing of the upper airway can be alleviated by placement of what is called a tracheostomy in the person's windpipe. A tracheostomy is an opening of the neck that bypasses the upper portion of the airway, which is narrowed by the disease, so that air can be more easily inhaled or exhaled.²

The tonsils or adenoids, two sets of glands in the throat that may become enlarged due to GAG storage, can also be removed to reduce airway obstruction and improve breathing.²

There is also a way to treat the tendency of people with MPS VI to temporarily stop breathing while they are asleep (sleep apnea). CPAP, which stands for Continuous Positive Airway Pressure, or BiPAP, which stands for Bilevel Positive Airway Pressure, keeps breathing going by gently pushing new air into a person's mouth every time he or she exhales. Sleep studies are by far the best way to detect sleep apnea; a doctor may easily overlook the condition unless he or she orders this specialized type of test.²

Precautions for Anesthesia and Surgery

General anesthesia during surgery can pose significant risk to people with MPS VI. This is because their windpipe may easily become blocked and their neck bone abnormalities increase the risk of damage to the spinal cord. Therefore it is ideal to involve an anesthesiologist who is experienced in working with MPS individuals—or at least to ensure that the anesthesiologist is informed about the specific risks associated with MPS.^2,4

It is also worthwhile to consider an alternative to general anesthesia, such as local anesthesia, which only numbs one part of the body. Other important precautions include careful screening for chest infections before and after surgery, and respiratory therapy before surgery to strengthen breathing muscles.⁴

Heart

Since heart problems are so common in MPS VI, it is important that the heart be monitored closely by a cardiologist who is familiar with the complications seen in MPS VI.²

Doctors may perform a number of tests to monitor the heart, but an especially important one that should be done regularly is called an echocardiogram—or "echo" for short. This noninvasive test can detect early warning signs of heart failure and identify damaged heart valves.²

In people who have damaged heart valves, heart valve replacement surgery may be the best treatment.²

For people who have any sort of heart problem, the doctor will sometimes prescribe antibiotic medication to help prevent bacterial infections in the heart, called bacterial endocarditis.³

Bones and Joints

The best approach to slowing the onset of joint stiffness is consistent physical therapy.²

1. Vougioukas VI, Berlis A, Kopp MV, et al. Neurosurgical interventions in children with Maroteaux-Lamy syndrome. Case report and review of the literature. Pediatr Neurosurg. 2001;35:35-38. Review.
2. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 3. 8th ed. New York, NY: McGraw-Hill; 2001:3421-3452.
3. Smith KS, Hallett KB, Hall RK, et al. Mucopolysaccharidosis: MPS VI and associated delayed tooth eruption. Int J Oral Maxillofac Surg. 1995;24:176-180.
4. Sjogren P, Pedersen T, Steinmetz H. Mucopolysaccharidoses and anaesthetic risks. Acta Anaesthesiol Scand. 1987;31:214-218. Review.