Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.
OBJECTIVE
To characterize surgical histories typical of patients with mucopolysaccharidosis type II, thereby broadening understanding of the natural history of these patients and helping physicians recognize the disease.


METHODS
Data on surgical interventions from the Hunter Outcome Survey--a multinational, observational database of patients with mucopolysaccharidosis type II-were analyzed. The study population comprised 527 patients for whom surgical data were reported on/before July 23, 2009.


RESULTS
Surgical interventions were performed in 83.7% of the study population. Patients underwent their first operation at a median age of 2.6 years. Tympanostomies, repairs of inguinal hernias, and operations for carpal tunnel syndrome were performed in a greater proportion of the study population than the general population. A median of 3.0 operations was performed per patient; repeat operations for hernia or carpal tunnel syndrome were common. The majority of patients (221/389) underwent at least one surgical intervention before diagnosis of mucopolysaccharidosis type II.


CONCLUSIONS
Patients with mucopolysaccharidosis type II typically undergo surgical intervention at a young age, often before diagnosis. Repeated early surgical interventions, particularly for hernias or carpal tunnel syndrome, are characteristic of patients with mucopolysaccharidosis type II. We recommend that such patients are carefully examined for manifestations of mucopolysaccharidosis disorders and referred for diagnostic testing.
Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota 55404, USA. nancy.mendelsohn@childrensmn.org
Nancy J
NJ
Mendelsohn
Paul
P
Harmatz
Olaf
O
Bodamer
Barbara K
BK
Burton
Roberto
R
Giugliani
Simon A
SA
Jones
Christina
C
Lampe
Gunilla
G
Malm
Robert D
RD
Steiner
Rossella
R
Parini
D000293:Adolescent; D017677:Age Distribution; D002648:Child; D002675:Child, Preschool; D003625:Data Collection; D006801:Humans; D007223:Infant; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis* / Q000601:surgery*; D013514:Surgical Procedures, Operative / Q000706:statistics & numerical data*; D016896:Treatment Outcome; D055815:Young Adult