The Role of Surgeons in Early Diagnosis of Hunter Syndrome
Tonsillectomy and adenoidectomy2
Umbilical and inguinal hernia repair1,2
Carpal tunnel syndrome release1
A history of early and frequent surgeries is a defining characteristic of Hunter syndrome and may trigger clinical suspicion.1 Repeat surgeries should serve as a clinical red flag, especially those that are rare in the unaffected population such as carpal tunnel syndrome release.1 In children, the most common cause of carpal tunnel syndrome is an underlying MPS disorder.2 Umbilical and inguinal hernias are also a common reason for Hunter syndrome patients requiring surgery, with a prevalence of approximately 50%; much higher than the general population.2
Hunter Outcome Survey results
In the Hunter Outcome Survey (HOS), a multinational, observational database of 527 patients, nearly 84% of MPS II patients had undergone a surgical procedure.2 As a pediatric surgeon, you may be one of the first physicians to suspect MPS II, as the majority of patients (56.8%) underwent at least one surgical intervention before diagnosis of MPS II.2
HOS data also showed that the median age of first operation was 2.6 years. In young patients (under 3 years) the most commonly repeated surgical procedures were tympanostomy, tonsillectomy, adenoidectomy, and hernia repair.2 Operable manifestations such as hernias and otitis media are among the first signs and symptoms to occur in patients with MPS II.2
1. Burton BK, Giugliani R. Eur J Pediatr. 2012;171(4):631-639. 2. Mendelsohn NJ et al. Genet Med. 2010;12(12):816-822.
Hunter syndrome is a
progressive genetic disease
If you suspect Hunter syndrome, refer your patient to a metabolic geneticist for an accurate diagnosis.