Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure

Hdl Handle:
http://hdl.handle.net/10147/303568
Title:
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure
Authors:
Langereis, Eveline J; Borgo, Andrea; Crushell, Ellen; Harmatz, Paul R; van Hasselt, Peter M; Jones, Simon A; Kelly, Paula M; Lampe, Christina; van der Lee, Johanna H; Odent, Thierry; Sakkers, Ralph; Scarpa, Maurizio; Schafroth, Matthias U; Struijs, Peter A; Valayannopoulos, Vassili; White, Klane K; Wijburg, Frits A
Citation:
Orphanet Journal of Rare Diseases. 2013 Oct 03;8(1):155
Issue Date:
3-Oct-2013
URI:
http://dx.doi.org/10.1186/1750-1172-8-155; http://hdl.handle.net/10147/303568
Abstract:
Abstract Background Mucopolysaccharidosis type I (MPS-I) is a lysosomal storage disorder characterized by progressive multi-organ disease. The standard of care for patients with the severe phenotype (Hurler syndrome, MPS I-H) is early hematopoietic stem cell transplantation (HSCT). However, skeletal disease, including hip dysplasia, is almost invariably present in MPS I-H, and appears to be particularly unresponsive to HSCT. Hip dysplasia may lead to pain and loss of ambulation, at least in a subset of patients, if left untreated. However, there is a lack of evidence to guide the development of clinical guidelines for the follow-up and treatment of hip dysplasia in patients with MPS I-H. Therefore, an international Delphi consensus procedure was initiated to construct consensus-based clinical practice guidelines in the absence of available evidence. Methods A literature review was conducted, and publications were graded according to their level of evidence. For the development of consensus guidelines, eight metabolic pediatricians and nine orthopedic surgeons with experience in the care of MPS I patients were invited to participate. Eleven case histories were assessed in two written rounds. For each case, the experts were asked if they would perform surgery, and they were asked to provide information on the aspects deemed essential or complicating in the decision-making process. In a subsequent face-to-face meeting, the results were presented and discussed. Draft consensus statements were discussed and adjusted until consensus was reached. Results Consensus was reached on seven statements. The panel concluded that early corrective surgery for MPS I-H patients with hip dysplasia should be considered. However, there was no full consensus as to whether such a procedure should be offered to all patients with hip dysplasia to prevent complications or whether a more conservative approach with surgical intervention only in those patients who develop clinically relevant symptoms due to the hip dysplasia is warranted. Conclusions This international consensus procedure led to the construction of clinical practice guidelines for hip dysplasia in transplanted MPS I-H patients. Early corrective surgery should be considered, but further research is needed to establish its efficacy and role in the treatment of hip dysplasia as seen in MPS I.
Item Type:
Article
Language:
en
Keywords:
MUSCULOSKELETAL DISORDERS
Local subject classification:
HIP DYSPLASIA

Full metadata record

DC FieldValue Language
dc.contributor.authorLangereis, Eveline Jen_GB
dc.contributor.authorBorgo, Andreaen_GB
dc.contributor.authorCrushell, Ellenen_GB
dc.contributor.authorHarmatz, Paul Ren_GB
dc.contributor.authorvan Hasselt, Peter Men_GB
dc.contributor.authorJones, Simon Aen_GB
dc.contributor.authorKelly, Paula Men_GB
dc.contributor.authorLampe, Christinaen_GB
dc.contributor.authorvan der Lee, Johanna Hen_GB
dc.contributor.authorOdent, Thierryen_GB
dc.contributor.authorSakkers, Ralphen_GB
dc.contributor.authorScarpa, Maurizioen_GB
dc.contributor.authorSchafroth, Matthias Uen_GB
dc.contributor.authorStruijs, Peter Aen_GB
dc.contributor.authorValayannopoulos, Vassilien_GB
dc.contributor.authorWhite, Klane Ken_GB
dc.contributor.authorWijburg, Frits Aen_GB
dc.date.accessioned2013-10-17T15:18:52Z-
dc.date.available2013-10-17T15:18:52Z-
dc.date.issued2013-10-03-
dc.identifier.citationOrphanet Journal of Rare Diseases. 2013 Oct 03;8(1):155en_GB
dc.identifier.urihttp://dx.doi.org/10.1186/1750-1172-8-155-
dc.identifier.urihttp://hdl.handle.net/10147/303568-
dc.description.abstractAbstract Background Mucopolysaccharidosis type I (MPS-I) is a lysosomal storage disorder characterized by progressive multi-organ disease. The standard of care for patients with the severe phenotype (Hurler syndrome, MPS I-H) is early hematopoietic stem cell transplantation (HSCT). However, skeletal disease, including hip dysplasia, is almost invariably present in MPS I-H, and appears to be particularly unresponsive to HSCT. Hip dysplasia may lead to pain and loss of ambulation, at least in a subset of patients, if left untreated. However, there is a lack of evidence to guide the development of clinical guidelines for the follow-up and treatment of hip dysplasia in patients with MPS I-H. Therefore, an international Delphi consensus procedure was initiated to construct consensus-based clinical practice guidelines in the absence of available evidence. Methods A literature review was conducted, and publications were graded according to their level of evidence. For the development of consensus guidelines, eight metabolic pediatricians and nine orthopedic surgeons with experience in the care of MPS I patients were invited to participate. Eleven case histories were assessed in two written rounds. For each case, the experts were asked if they would perform surgery, and they were asked to provide information on the aspects deemed essential or complicating in the decision-making process. In a subsequent face-to-face meeting, the results were presented and discussed. Draft consensus statements were discussed and adjusted until consensus was reached. Results Consensus was reached on seven statements. The panel concluded that early corrective surgery for MPS I-H patients with hip dysplasia should be considered. However, there was no full consensus as to whether such a procedure should be offered to all patients with hip dysplasia to prevent complications or whether a more conservative approach with surgical intervention only in those patients who develop clinically relevant symptoms due to the hip dysplasia is warranted. Conclusions This international consensus procedure led to the construction of clinical practice guidelines for hip dysplasia in transplanted MPS I-H patients. Early corrective surgery should be considered, but further research is needed to establish its efficacy and role in the treatment of hip dysplasia as seen in MPS I.-
dc.language.isoenen
dc.subjectMUSCULOSKELETAL DISORDERSen_GB
dc.subject.otherHIP DYSPLASIAen_GB
dc.titleTreatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedureen_GB
dc.typeArticleen
dc.language.rfc3066en-
dc.rights.holderEveline J Langereis et al.; licensee BioMed Central Ltd.-
dc.description.statusPeer Reviewed-
dc.date.updated2013-10-16T15:07:48Z-
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