title: Gaucher disease: outcome following total hip replacements and effect of enzyme replacement therapy in a cohort of UK patients.
abstract: Only a limited number of reports of total hip replacements (THRs) in patients with Gaucher disease (GD) have been published, with the majority showing high rates of early aseptic loosening as well as an increased number of peri-operative complications. We present a series of twelve THRs in nine affected patients, with a mean age of 39 years at the time of surgery (median 37 years; range 27-60 years). We examine the medium- to long-term results and present the outcome scores, survival, and assess the effect of enzyme replacement therapy (ERT). Four hips (33.3%) required revision for aseptic loosening at a mean time of 11.5 years. There was no significant difference in survival between the group on ERT at the time of surgery and group not on ERT. Those on ERT did, however, have fewer peri-operative complications and there was a trend to better outcome scores. Five of the 12 THRs were performed when the diagnosis of GD was unknown and all of these had early complications.?Our results show better survival of THRs in patients with GD than previously thought. The use of ERT pre-operatively did not have an effect on survival, nor outcome scores, but did reduce the peri-operative complication rate. Those not on ERT at the time of surgery were commenced on it at some point in their treatment (at an average of 8.6 years following THR) and we believe the use of ERT, at any time in the treatment, could have contributed to the improved survival seen in our series compared to historical results in the literature.
authors.affiliation: Department of Trauma and Orthopaedics, Royal Free Hospital, London, UK. jamesrdonaldson@gmail.com
authors.forename: James
authors.initials: J
authors.lastname: Donaldson
authors.forename: Wasim S
authors.initials: WS
authors.lastname: Khan
authors.forename: Hiteshkumar
authors.initials: H
authors.lastname: Tailor
authors.forename: Derralynn A
authors.initials: DA
authors.lastname: Hughes
authors.forename: Atul B
authors.initials: AB
authors.lastname: Mehta
authors.forename: Nimalan
authors.initials: N
authors.lastname: Maruthainar
mesh_terms: D000328:Adult; D000368:Aged; D019644:Arthroplasty, Replacement, Hip / Q000009:adverse effects / Q000379:methods*; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy* / Q000601:surgery*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011475:Prosthesis Failure; D012086:Reoperation; D013156:Splenectomy; D016896:Treatment Outcome
chemical_list: D005962:Glucosylceramidase