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

Orphanet Journal of Rare Diseases

Frits A Wijburg³  Klane K White⁵  Vassili Valayannopoulos⁶  Peter A Struijs^1,15  Matthias U Schafroth^1,15  Maurizio Scarpa⁹  Ralph Sakkers⁷  Thierry Odent¹  Johanna H van der Lee⁴  Christina Lampe²  Paula M Kelly^1,14  Simon A Jones^1,13  Peter M van Hasselt⁸  Paul R Harmatz^1,11  Ellen Crushell^1,10  Andrea Borgo^1,12  Eveline J Langereis³ 

[1] Department of Orthopaedic Surgery, Necker-Enfants/Malades Hospital, Paris Descartes University, Paris, France;Department of Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center of the Johannes Gutenberg University of Mainz, Mainz, Germany;Department of Pediatrics and Lysosome Center 'Sphinx’, Academic Medical Center, University of Amsterdam, H7-270, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands;Clinical Research Unit, Woman-Child Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands;Department of Orthopedics and Sports Medicine, Seattle Children’s Hospital, University of Washington, Seattle, WA, USA;IMAGINE Institute and Paris Descartes University, Reference Centre for Inherited Metabolic Diseases, Necker-Enfants Malades Hospital, Paris, France;Department of Orthopaedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands;Department of Pediatrics, Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands;Department of Pediatrics, University of Padua, Padua, Italy;National Centre for Inherited Metabolic Disorders, Children’s University Hospital, Dublin, Ireland;Children’s Hospital & Research Center Oakland, Oakland, CA, USA;Department of Orthopaedics and Traumatology, University of Padua, Padua, Italy;Genetic Medicine, Manchester Academic Health Science Centre, Central Manchester University Hospitals, NHS Foundation Trust, St Mary’s Hospital, Manchester, UK;Department of Orthopaedic Surgery, Our Lady’s Children’s Hospital, Dublin, Ireland;Department of Orthopaedic Surgery, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

关键词: Consensus;    Surgical treatment;    Hip dysplasia;    Dysostosis multiplex;    Hematopoietic stem cell transplantation;    Hurler syndrome;    Mucopolysaccharidosis type I;   

Others  :  863497
DOI  :  10.1186/1750-1172-8-155

 received in 2013-06-04, accepted in 2013-09-30,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Langereis et al.; licensee BioMed Central Ltd.

【 图 表 】

【 参考文献 】

• [1]Neufeld EF, Muenzer J: The mucopolysaccharidoses. In The online metabolic and molecular bases of inherited disease. Edited by Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A. New York: McGraw-Hill; 2007.
• [2]Roubicek M, Gehler J, Spranger J: The clinical spectrum of alpha-L-iduronidase deficiency. Am J Med Genet 1985, 20:471-481.
• [3]Field RE, Buchanan JA, Copplemans MG, Aichroth PM: Bone-marrow transplantation in hurler’s syndrome: effect on skeletal development. J Bone Joint Surg Br 1994, 76:975-981.
• [4]Breider MA, Shull RM, Constantopoulos G: Long-term effects of bone marrow transplantation in dogs with mucopolysaccharidosis I. Am J Pathol 1989, 134:677-692.
• [5]Russell C, Hendson G, Jevon G, Matlock T, Yu J, Aklujkar M, Ng KY, Clarke LA: Murine MPS I: insights into the pathogenesis of hurler syndrome. Clin Genet 1998, 53:349-361.
• [6]Chen SJ, Li YW, Wang TR, Hsu JC: Bony changes in common mucopolysaccharidoses. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1996, 37:178-184.
• [7]Schmidt H, Ullrich K, von Lengerke HJ, Kleine M, Bramswig J: Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome). Pediatr Radiol 1987, 17:409-414.
• [8]Simonaro CM, D’Angelo M, He X, Eliyahu E, Shtraizent N, Haskins ME, Schuchman EH: Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases. Am J Pathol 2008, 172:112-122.
• [9]Pan C, Nelson MS, Reyes M, Koodie L, Brazil JJ, Stephenson EJ, Zhao RC, Peters C, Selleck SB, Stringer SE, et al.: Functional abnormalities of heparan sulfate in mucopolysaccharidosis-I are associated with defective biologic activity of FGF-2 on human multipotent progenitor cells. Blood 2005, 106:1956-1964.
• [10]de Ru MH, Boelens JJ, Das AM, Jones SA, van der Lee JH, Mahlaoui N, Mengel E, Offringa M, O’Meara A, Parini R, et al.: Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis 2011, 6:55. BioMed Central Full Text
• [11]Peters C, Shapiro EG, Anderson J, Henslee-Downey PJ, Klemperer MR, Cowan MJ, Saunders EF, de Alarcon PA, Twist C, Nachman JB, et al.: Hurler syndrome: II. outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children: the storage disease collaborative study group. Blood 1998, 91:2601-2608.
• [12]Peters C, Balthazor M, Shapiro EG, King RJ, Kollman C, Hegland JD, Henslee-Downey J, Trigg ME, Cowan MJ, Sanders J, et al.: Outcome of unrelated donor bone marrow transplantation in 40 children with hurler syndrome. Blood 1996, 87:4894-4902.
• [13]Stoop FJ, Kruyt MC, van der Linden MH, Sakkers RJ, van Hasselt PM, Castelein RMC: Prevalence and development of orthopaedic symptoms in the dutch hurler patient population after haematopoietic stem cell transplantation. Journal of Inherited Metabolic Diseases Reports 2013, 9:17-29.
• [14]Vellodi A, Young EP, Cooper A, Wraith JE, Winchester B, Meaney C, Ramaswami U, Will A: Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. Arch Dis Child 1997, 76:92-99.
• [15]Souillet G, Guffon N, Maire I, Pujol M, Taylor P, Sevin F, Bleyzac N, Mulier C, Durin A, Kebaili K, et al.: Outcome of 27 patients with hurler’s syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant 2003, 31:1105-1117.
• [16]Masterson EL, Murphy PG, O’Meara A, Moore DP, Dowling FE, Fogarty EE: Hip dysplasia in hurler’s syndrome: orthopaedic management after bone marrow transplantation. J Pediatr Orthop 1996, 16:731-733.
• [17]Taylor C, Brady P, O’Meara A, Moore D, Dowling F, Fogarty E: Mobility in hurler syndrome. J Pediatr Orthop 2008, 28:163-168.
• [18]Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S: Musculoskeletal manifestations of hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop 2004, 24:97-101.
• [19]Aldenhoven M, Sakkers RJ, Boelens J, de Koning TJ, Wulffraat NM: Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis 2009, 68:1659-1665.
• [20]Salter RB: The classic: innominate osteotomy in the treatment of congenital dislocation and subluxation of the hip by Robert B. Salter, J. Bone Joint Surg. (Brit) 43B:3:518, 1961. Clin Orthop Relat Res 1978, 137:2-14.
• [21]Dega W: Selection of surgical methods in the treatment of congenital dislocation of the hip in children. Chir Narzadow Ruchu Ortop Pol 1969, 34:357-366.
• [22]Pemberton P: Pericapsular osteotomy of the ilium for treatment of congenital subluxation and dislocation of the Hip. J Bone Joint Surg Am 1965, 47:65-86.
• [23]Chiari K: Medial displacement osteotomy of the pelvis. Clin Orthop Relat Res 1974, 98:55-71.
• [24]Boelens JJ, Aldenhoven M, Purtill D, Eapen M, DeForr T, Wynn RF, Cavazanna-Calvo M, Tolar J, Prasad VK, Escolar M, et al.: Outcomes of transplantation using a various cell source in children with hurlers syndrome after myelo-ablative conditioning: an EUROCORD-EBMT-CIBMTR collaborative study [abstract]. Biol Blood Marrow Transplant 2010, 16(2):S180-S181.
• [25]Staba SL, Escolar ML, Poe M, Kim Y, Martin PL, Szabolcs P, Allison-Thacker J, Wood S, Wenger DA, Rubinstein P, et al.: Cord-blood transplants from unrelated donors in patients with hurler’s syndrome. N Engl J Med 2004, 350:1960-1969.
• [26]Linstone H, Turoff M: The delphi method: techniques and applications. Reading, MA: Addison-Wesley; 1975.
• [27]Cohen J: Weighted kappa: nominal scale agreement with provision for scaled disagreement or partial credit. Psychol Bull 1968, 70:213-220.
• [28]Altman DG: Practical statistics for medical research. London: Chapman & Hall; 1991.
• [29]Grigull L, Sykora KW, Tenger A, Bertram H, Meyer-Marcotty M, Hartmann H, Bultmann E, Beilken A, Zivicnjak M, Mynarek M, et al.: Variable disease progression after successful stem cell transplantation: prospective follow-up investigations in eight patients with hurler syndrome. Pediatr Transplant 2011, 15:861-869.
• [30]Muenzer J, Wraith JE, Clarke LA: Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 2009, 123:19-29.
• [31]Walker R, Belani KG, Braunlin EA, Bruce IA, Hack H, Harmatz PR, Jones S, Rowe R, Solanki GA, Valdemarsson B: Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis 2013, 36:211-9.
• [32]van der Linden MH, Kruyt MC, Sakkers RJ, de Koning TJ, Oner FC, Castelein RM: Orthopaedic management of hurler’s disease after hematopoietic stem cell transplantation: a systematic review. J Inherit Metab Dis 2011, 34:657-669.
• [33]Hsu CC, Sandford BA: The delphi technique: making sense of consensus. Practical Assessment, Research & Evaluation 2007, 12(10):1-8.