Abstract
Introduction
Gaucher Disease (GD) is the commonest of the lysosomal storage disorders. Orthopaedic manifestations occur in 90% and include osteonecrosis of the femoral head, often producing severe disability at a young age. Historically, arthroplasty has been avoided in GD due to high reported rates of haemorrhage and decreased implant survival. The advent of enzyme replacement therapy (ERT) has revolutionised GD treatment with correction of haematological parameters within five months. However there is little data regarding the effect of ERT on the outcomes of hip arthroplasty.
Materials and Method
All patients on the Cambridge Gaucher register with a coding for hip replacement were included in the study. Demographic and operative data were recorded from the patient notes and radiographical analysis was conducted. Hip scores were obtained via telephone interview.
Results
Ten patients were included, undergoing sixteen primary and ten revision arthroplasties with an average follow-up of 14.8 years. ERT produced a significant reduction in blood loss with all haemorrhage greater than 1500mls in the non-ERT group. Seven primary implants were revised at a mean of 11.8 years with survival of 77% at ten years. Implant survival was not influenced by ERT. Hip scores were satisfactory and not affected by ERT.
Discussion
We present the largest series, with respect to implant numbers, and with the longest follow-up in the published literature. ERT reduced blood loss to levels seen for routine arthroplasty with maximum benefit reached within ten months of therapy. Implant survival was similar to other age matched cohorts with adequate 10-year survival. Hip scores were satisfactory and reflected the severity of pre-operative skeletal destruction.
Conclusions
Arthroplasty is a safe and effective procedure for GD patients receiving ERT. Newly diagnosed patients should have surgery delayed by at least five months to allow ERT to elicit an effect.
