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Palliative Care

Medical management of MPS VI and other MPS disorders has traditionally been symptom-based, aimed at ameliorating some of the more dangerous and debilitating manifestations of MPS VI. Today, symptom-based management plays an important role, often in conjunction with additional therapeutic options for patients with MPS VI.

Frequent evaluation, early recognition of complications, and symptom-based management can play an important role in maintaining the patient's quality of life, and in some cases prevent the occurrence of permanent and severely disabling damage.

Medical Management of Symptoms

A brief summary of pertinent assessments and symptom-based therapies that individuals with MPS VI often undergo is provided below.

Brain and Nerves

  • Regular neurological assessments, including appropriate imaging studies and nerve conduction studies
  • Lumbar puncture and measurement of opening pressure to confirm the diagnosis of hydrocephalus
  • Ventriculoperitoneal shunt placement, to manage communicating hydrocephalus1
  • Spinal cord decompression surgery and/or spinal fusion to treat spinal cord compression (pachymeningitis cervicalis, spinal cord compression at any level due to bony abnormality or subluxation)1
  • Surgical decompression of the median nerve for carpal tunnel syndrome2

Timely and appropriate intervention—facilitated by early diagnosis of neurological complications—may be crucial to preventing the onset of permanent disability such as blindness, loss of sensation, or irreversible paralysis.1,2

Eyes

  • Regular ophthalmological evaluations
  • Corneal transplant, to treat corneal clouding and subsequent loss of visual acuity1,2
  • Optic nerve decompression to relieve optic canal stenosis, optic atrophy, and optic nerve atrophy1
  • Monitoring intraocular pressure for glaucoma2

Ears

  • Early and regular hearing assessments2
  • Hearing aid, to alleviate loss of hearing2
  • Ventilatory tubes to minimize the long-term effects of frequent otitis media2
  • Tonsillectomy or adenoidectomy to correct Eustachian tube dysfunction2

Mouth and Teeth

  • Early and regular dental exams
  • Surgical exposure of unerupted teeth3
  • Surgical removal of impacted teeth3
  • Proactive dental care, to reduce the risk of bacterial endocarditis3

Initiation of dental care early in life may reduce oral infection and the subsequent need for surgical tooth removal.3

Airways and Respiration

  • Sleep studies, to diagnose sleep apnea2
  • Prompt and aggressive antibiotic treatment for frequent upper and lower respiratory infections4
  • CPAP, BiPAP and/or supplemental oxygen, for sleep apnea2
  • Tonsillectomy and adenoidectomy, or excision of tracheal lesions and redundant nasopharyngeal tissue to manage upper airway obstruction2
  • Tracheostomy to manage severe upper airway obstruction2

Precautions for Anesthesia and Surgery

The MPS patient presents significant challenges in the setting of anesthesia. Upper airway obstruction can mean difficulty in maintaining an open airway. An unstable atlantoaxial joint requires careful positioning prior to anesthesia, in order to avoid hyperextension of the neck. In addition, airway anomalies, bleeding, and excessive salivation can render intubation extremely difficult. As a result, anesthesia of MPS patients should only be attempted by anesthesiologists who are experienced in the disorder.2,4

The following recommendations have also been made concerning anesthesia of patients with MPS, including MPS VI:

  • Involvement of a center and staff experienced in anesthesia in MPS patients
  • Use of local or regional anesthesia—combined with sedation if necessary—whenever possible4
  • Thorough evaluation before surgery, including a survey of cardiac and pulmonary status, and cervical spine stability4
  • Aggressive diagnosis and treatment of respiratory infections before and after surgery4
  • Respiratory physiotherapy to optimize lung function before surgery4

Heart

  • Regular cardiac evaluations, including echocardiography to detect cardiomyopathy, valvular disease, hypertrophy, and heart failure2
  • Heart valve replacement to treat frequently occurring disease of the mitral and aortic valves2
  • Antibiotic prophylaxis for bacterial endocarditis in patients with cardiac abnormalities2
  • Proactive dental care, to reduce the risk of bacterial endocarditis3

Bones, Joints, and Muscles

  • Physical therapy for progressive joint stiffness2
  • Spinal fusion surgery for spinal instability or curvature
  • Umbilical or inguinal hernia repair

This information is provided only for the purpose of illustration and is not intended to substitute for individualized advice from a licensed medical professional.

  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.
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