High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry

J Pediatr Surg. 2012 Mar;47(3):477-84. doi: 10.1016/j.jpedsurg.2011.09.042.

Abstract

Background/purpose: Mucopolysaccharidosis I (MPS I) is a rare lysosomal storage disorder caused by deficiency of α-L-iduronidase, which results in progressive multisystemic disease. Patients with MPS I often require multiple common and uncommon surgeries and are at risk for surgical and anesthetic complications because of respiratory and cardiac disease. Surgery often precedes diagnosis; thus, surgeons and anesthesiologists may be unaware of potential risks.

Methods: We analyzed data from the MPS I Registry, a voluntary observational database, for deaths occurring within 1 month of a surgical procedure among the 932 patients enrolled as of July 2010.

Results: Among the 196 deceased patients, 186 reported 1 surgery or more, and 32 had 1 surgery or more within 1 month of death, including 20 who had 1 surgery or more within 10 days of death. Surgeries before death included hernia repair, central line placement, spinal surgery, tracheostomy, and ventriculo-peritoneal shunt. Most patients (28/32) had severe MPS I (Hurler), and 20 of 32 patients (all Hurler) died at 3 years or younger. In 6 of 32 patients, surgery was directly noted in the cause of death, including 4 patients with an attenuated form of MPS I.

Conclusions: Patients with mucopolysaccharidosis have a high postoperative mortality because of underlying respiratory and cardiac diseases.

Publication types

  • Evaluation Study

MeSH terms

  • Adolescent
  • Adult
  • Cause of Death
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Intraoperative Complications / mortality*
  • Male
  • Mucopolysaccharidosis I / complications
  • Mucopolysaccharidosis I / mortality*
  • Mucopolysaccharidosis I / surgery
  • Postoperative Complications / mortality*
  • Registries
  • Young Adult