Genetics of Mucopolysaccharidosis Type VI Treatment & Management
- Author: Paul R Harmatz, MD; Chief Editor: Maria Descartes, MD more...
Patients with mucopolysaccharidosis type VI (MPS VI) require ongoing medical care from numerous subspecialists. In addition, patients should receive routine pediatric care, including immunizations. The US Food and Drug Administration (FDA)–approved enzyme replacement therapy with galsulfase (Naglazyme) has been shown to improve walking and stair-climbing capacity and to decrease urine glycosaminoglycan (GAG) levels in patients with MPS VI.[10, 11]
- Perform ongoing evaluations for the development of valvular cardiac disease. Such evaluations include annual echocardiograms.
- Antibiotics (to prevent subacute bacterial endocarditis from medical and dental procedures) should be discussed with a cardiologist.
- Many patients show evidence of restrictive airway disease, obstructive airway disease, or both. Conduct ongoing assessments for the development of clinically significant hypoventilation. Patients may benefit from oxygen or positive pressure therapy (continuous positive airway pressure [CPAP] or bilevel positive airway pressure [BIPAP]), especially when asleep if they have sleep apnea.
- Patients typically have contractures and hand deformities. A program of physical therapy may be beneficial in maintaining optimal function. Carpal tunnel syndrome may be present and asymptomatic and should be evaluated with nerve conduction on a regular basis.
- Patients who develop headache, vision change, or vomiting should be evaluated for increased intracranial pressure and hydrocephalus. Measuring intrathecal spinal fluid pressure to confirm increased intracranial pressure may be necessary.
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- Patients who develop clinically significant valvular heart disease may require valve replacement.
- Patients with obstructive airway disease sometimes benefit from tonsillectomy and adenoidectomy. Severe airway obstruction and hypoventilation may eventually require tracheostomy.
- Corneal transplants have been successful in restoring vision to patients with corneal clouding, although storage in the transplanted cornea may recur over time.
- Surgical decompression of the carpal tunnel to preserve median nerve function may be necessary.
- Neurosurgery may be required to place ventriculoperitoneal decompression shunts for hydrocephalus or increased intracranial pressure.
- Orthopedic surgery may be necessary to decompress the spinal cord or to stabilize the atlantoaxial junction.
- Patients often develop hip dysplasia and require hip replacement surgery
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- Geneticist: Refer all patients suspected of having an MPS to a medical geneticist. The geneticist is needed to provide definitive diagnosis and appropriate counseling of the family about recurrence risks.
- Cardiologist: Refer affected patients to a cardiologist because of the risk for valvular heart disease.
- Audiologist: Refer affected patients to an audiologist for periodic hearing evaluations because both conductive and sensorineural hearing loss can occur.
- Ophthalmologist: Obtain slitlamp and funduscopic examinations during the initial evaluation and then periodically thereafter. Corneal clouding can lead to significant visual impairment.
- Neurosurgeon or orthopedist: Spinal cord compression secondary to boney narrowing of the canal and thickening of the dura in the cervical canal has been described. Spinal cord compression results in myelopathy, which may require surgical intervention.
- Pulmonologist: A pulmonologist should evaluate the patient regularly to identify airway obstruction, hypoventilation, or sleep apnea.
- Rehabilitation medicine: This specialist can prescribe appropriate occupational and physical therapy, identify medical devices such as the wheel chair that will improve quality of life, and often provide nerve conduction studies to follow median nerve function and diagnose carpal tunnel and need for surgery.
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- No special dietary requirements are noted.
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- Patients with MPS VI usually have some limitations on their level of activity because of contractures and joint stiffness.
- Patients with cardiac manifestations or pulmonary insufficiency may be limited in their activity level.
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