Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome)

TY - JOUR

T1 - Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome)

T2 - data from the Hunter Outcome Survey

AU - Mendelsohn, Nancy J

AU - Harmatz, Paul

AU - Bodamer, Olaf

AU - Burton, Barbara K

AU - Giugliani, Roberto

AU - Jones, Simon A

AU - Lampe, Christina

AU - Malm, Gunilla

AU - Steiner, Robert D

AU - Parini, Rossella

AU - Hunter Outcome Survey Investigators

AU - Muschol, Nicole Maria

PY - 2010/12/1

Y1 - 2010/12/1

N2 - PURPOSE: 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.CONCLUSION: 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.

AB - PURPOSE: 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.CONCLUSION: 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.

KW - Adolescent

KW - Age Distribution

KW - Child

KW - Child, Preschool

KW - Data Collection

KW - Humans

KW - Infant

KW - Male

KW - Mucopolysaccharidosis II

KW - Surgical Procedures, Operative

KW - Treatment Outcome

KW - Young Adult

U2 - 10.1097/GIM.0b013e3181f6e74d

DO - 10.1097/GIM.0b013e3181f6e74d

M3 - SCORING: Journal article

C2 - 21045710

VL - 12

SP - 816

EP - 822

JO - GENET MED

JF - GENET MED

SN - 1098-3600

IS - 12

ER -