Surgical Management

Surgical intervention is often a necessary but high-risk procedure in patients with MPS I/MPS II.

Analyses of data from the global MPS I Registry have shown that almost half of all patients with MPS I required at least 2 surgical interventions by the age of 4 years.1 Over 80% of patients with MPS II enrolled in the Hunter Outcome Survey (HOS) required surgical intervention, typically before the age of 10 years. A median of 3 operations per patient was reported.2

Some of the surgical interventions used to manage disease manifestations in MPS I and MPS II are listed in the table below.3-5 Sometimes surgical intervention is life-saving, for example tracheostomy may be required by patients with severe sleep apnoea.4

Surgical management for MPS I/MPS II

Condition Treatment
Neurological manifestations
Communicating hydrocephalus
Spinal cord compression
Carpal tunnel syndrome		  
Ventriculoperitoneal shunting
Surgical decompression
Surgical decompression of the median nerve
Musculoskeletal manifestations Instrumented fusion to stabilise and strengthen the spine, arthroscopy, hip or knee replacement, correction of the lower limb axis, osteotomy for hip dysplasia, epiphyseal stapling for genu valgum 
Recurrent upper respiratory tract infections Adenotonsillectomy
Hernia Surgical repair
Severe sleep apnoea Tracheostomy
Cardic valve disease Valve replacement

Surgical risks: general anaesthesia

General anaesthesia is problematic in patients with MPS I/MPS II because of upper airway obstruction. The short neck, immobile jaw, enlarged tongue and upper airway abnormalities complicate intubation and cause a high rate of failed intubation.4-6 Upper-airway obstruction after extubation is also an issue and can be fatal.5 The potential need for postoperative tracheostomy should always be considered.4

Due to the risks, only anaesthetists who have experience in treating patients with MPS should administer general anaesthesia. Local or regional anaesthesia should always be considered when possible. Surgical procedures should only be performed at centres with on-site intensive care facilities.3

References

  1. 1.Arn P, Wraith JE, Underhill L. (2009) Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry. J Pediatr 154(6): 859-864 e853.
  2. 2.Mendelsohn NJ, Harmatz P, Bodamer O, et al. (2010) Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. Genet Med 12(12): 816-822.
  3. 3.Scarpa M, Almassy Z, Beck M, et al. (2011) Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis 6: 72.
  1. 4.Muenzer J, Wraith JE, Clarke LA, International Consensus Panel on M, Treatment of Mucopolysaccharidosis I. (2009) Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 123(1): 19-29.
  2. 5.Muenzer J, Beck M, Eng CM, et al. (2009) Multidisciplinary management of Hunter syndrome. Pediatrics 124(6): e1228-1239.