Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry.
OBJECTIVE
To clarify the extent and chronology of surgical burden in relation to symptom onset and diagnosis in patients with mucopolysaccharidosis I (MPS I) as reported in the MPS I Registry, an international observational database.


METHODS
Analysis of surgical data from 544 patients enrolled in the MPS I Registry. Among all patients with at least 1 reported surgery, the number and frequency of procedures, and age at procedure, diagnosis, and symptom onset were collected overall, by patient, and by reported phenotype (Hurler, Hurler-Scheie, Scheie).


RESULTS
Overall and by phenotype, approximately 75% of patients in the MPS I Registry reported at least 1 surgery. The most common were myringotomies and related procedures, hernia repair, adenoidectomy/tonsillectomy, and carpal-tunnel release. Median age at first surgery was <5 years. A median of 3 to 4 surgeries was reported per patient. By age 1.5, 4, and 10 years, respectively, 22%, 44%, and 54% of patients reported > or = 2 surgeries. At least 1 surgery preceded diagnosis in 36%, 46%, and 63% of patients with Hurler, Hurler-Scheie, and Scheie, respectively.


CONCLUSIONS
Pediatricians and pediatric surgeons need to be aware of the surgical burden of MPS I and be alert to its presenting signs and symptoms in children scheduled for surgery.
Arn
Pamela
P
Department of Pediatrics, The Nemours Children's Clinic, Jacksonville, FL 32207, USA. parn@nemours.org
Wraith
J Edmond
JE
Underhill
Lisa
L
D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008059:Mucopolysaccharidosis I / Q000145:classification / Q000150:complications* / Q000175:diagnosis; D010641:Phenotype; D013514:Surgical Procedures, Operative / Q000145:classification / Q000706:statistics & numerical data*; D055815:Young Adult