Mucopolysaccharidosis

Rare inherited liposomal storage conditions:

• Where the body is unable to effectively breakdown mucopolysaccharides
  Causes buildup of these sugar molecules in tissues.
• Classified by age at presentation and enzymatic deficiency into seven forms

Epidemiology and Risk Factors

Pathophysiology

Genetic diseases with:

• Variable inheritance patterns including:
  • Autosomal recessive
    Majority.
  • X-linked recessive
• Deficiencies in lysosomal enzymes involve in metabolism of mucopolysaccharides
• Accumulation of mucopolysaccharides in organs leads to dysfunction of that organ

Clinical Manifestations

In general:

• Asymptomatic at birth
• Initial period of normal development
• Decline in mental and physical function

Four broad categories of clinical appearance:

• Soft tissue storage and skeletal disease without brain disease
  MPS I, II, VII.
• Soft tissue and skeletal disease
  MPS VI.
• Primarily skeletal disease
  MPS IVa, IVb.
• Primarily CNS disease
  MPS IIIa-d.

Diagnostic Approach and DDx

Investigations

Management

Primarily supportive.

Therapeutic interventions include:

• Bone marrow transplant
  May:
  • Reduce hepatosplenomegaly
  • Improve myocardial function
  • Improve respiratory function
  • Stabilise mental regression

Anaesthetic Considerations

• A
  • Facial and airway distortion
    • Difficult face mask ventilation
      7-14%.
    • Difficult tracheal intubation
      28-44%.
  • Atlanto-axial instability
  • Excessive secretions
• B
  • OSA
  • Obstructive/restrictive lung disease
  • Frequent infections
• C
  • Cardiomyopathy
  • Valvular disease
  • Coronary disease
  • Pulmonary hypertension
• D
  • Developmental delay
  • Communicating hydrocephalus
• E
  • Skeletal dysplasia
    • Pectus carinatum
    • Scoliosis
  • Spinal cord compression
• G
  • Hepatosplenomegaly

Marginal and Ineffective Therapies

Complications

Prognosis

Grim, with:

• Death in early childhood
  • Pulmonary infection
  • Pulmonary hypertension
  • Cardiomyopathy

Key Studies

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References

1. Clark BM, Sprung J, Weingarten TN, Warner ME. Anesthesia for patients with mucopolysaccharidoses: Comprehensive review of the literature with emphasis on airway management. Bosn J Basic Med Sci. 2018;18(1):1-7. doi:10.17305/bjbms.2017.2201
2. Sam JA, Baluch AR, Niaz RS, Lonadier L, Kaye AD. MUCOPOLYSACCHARIDOSES: ANESTHETIC CONSIDERATIONS AND CLINICAL MANIFESTATIONS. 2011:12.