Priority 6 from the Rare Musculoskeletal Diseases in Adulthood PSP

UNCERTAINTY: What are the best forms of surgery to treat bones and joints in people with rare metabolic bone disorders? (JLA PSP Priority 6)
Overall ranking	6
JLA question ID	0076/6
Explanatory note	Not available for this PSP
Evidence	A small case series suggests that hip and knee arthroplasties are effective in treating arthritis associated with XLH, but osteotomy may also be required if there is severe deformity (Larson AN et al, J Arthroplasty 2010; 25: 1099-1103). Other small case series report correction of lower limb deformities with osteotomy, external fixation and insertion of an intramedullary nail (Kocaoglu M et al, J Bone Joint Surg Br 2011; 93: 52-56, Song HR et al, Acta Orthop 2006; 77: 307-314) . Correction of deformity has also incuded leg lengthening using distraction osteogenesis by Ilizarov or Heidelberg external fixation (Matsubara H et al, Arch Orthop Trauma Surg 2008; 128: 1137-1143, Choi IH et al, J Pediatr Orthop 2002; 22: 626-631). Functional and radiological outcomes of a minimally invasive surgical approach to monostotic fibrous dysplasia. Rosario MS1,2, Hayashi K3, Yamamoto N1, Takeuchi A1, Miwa S1, Taniguchi Y1, Tsuchiya H1. World J Surg Oncol. 2017 Jan 5;15(1):1. (n=12) Surgical treatment for fibrous dysplasia of femoral neck with mild but prolonged symptoms: a case series. Nishida Y1, Tsukushi S2, Hosono K3, Nakashima H4,5, Yamada Y6, Urakawa H7, Ishiguro N8. J Orthop Surg Res. 2015 May 10;10:63. (n=8) Valgus osteotomy in combination with dynamic hip screw fixation for fibrous dysplasia with shepherd's crook deformity. Li W1, Huang X, Ye Z, Yang D, Tao H, Lin N, Yang Z. Arch Orthop Trauma Surg. 2013 Feb;133(2):147-52. (n=21) Surgical treatment of dysplasia fibrosa and defectus fibrosus with bone allografts. Tomasik P1, Spindel J, Miszczyk L, Chrobok A, Koczy B, Widuchowski J, Mrozek T, Matysiakiewicz J, Pilecki B. Ortop Traumatol Rehabil. 2010 Jan-Feb;12(1):58-66. Valgus osteotomy combined with intramedullary nail for Shepherd's crook deformity in fibrous dysplasia: 14 femurs with a minimum of 4 years follow-up. Yang L1, Jing Y, Hong D, Chong-Qi T. Arch Orthop Trauma Surg. 2010 Apr;130(4):497-502.. Fibrous dysplasia of bone: management and outcome of 20 cases. Keijser LC1, Van Tienen TG, Schreuder HW, Lemmens JA, Pruszczynski M, Veth RP. J Surg Oncol. 2001 Mar;76(3):157-66; discussion 167-8. (n=20) Fibrous dysplasia of the proximal part of the femur. Long-term results of curettage and bone-grafting and mechanical realignment. Guille JT1, Kumar SJ, MacEwen GD. J Bone Joint Surg Am. 1998 May;80(5):648-58. What Is the Role of Allogeneic Cortical Strut Grafts in the Treatment of Fibrous Dysplasia of the Proximal Femur? Majoor BC1, Peeters-Boef MJ2, van de Sande MA2, Appelman-Dijkstra NM3, Hamdy NA3, Dijkstra PD2. Clin Orthop Relat Res. 2017 Mar;475(3):786-795. (n=30)
Health Research Classification System category	Musculoskeletal

Extra information provided by this PSP
Original uncertainty examples	Surgical interventions: For whom? When? Which techniques? Pharmacological pre-treatment? ~ Why does my femurs get thinner because of rods? ~ Do knee/hip replacements help in the short or long term? ~ Surgery - should one have bone grafting in e.g. Tibia ? If so - what sort of graft? If a nail is put into , say, tibia ,should it be taken out at some stage? ~ Will it be a good idea to see an orthopedic surgeon to follow up on the surgeries I had many years ago?
Submitted by	Individual survey submissions categorised by Health or Social Care Professionals, Organisations representing people with rare musculoskeletal diseases, people with rare musculoskeletal diseases, relatives/carers/friends, Other. For full details of the type of submitter for each individual question, please see the spreadsheet of data held on the JLA website.

Extra information provided by this PSP

Original uncertainty examples

Surgical interventions: For whom? When? Which techniques? Pharmacological pre-treatment? ~ Why does my femurs get thinner because of rods? ~ Do knee/hip replacements help in the short or long term? ~ Surgery - should one have bone grafting in e.g. Tibia ? If so - what sort of graft? If a nail is put into , say, tibia ,should it be taken out at some stage? ~ Will it be a good idea to see an orthopedic surgeon to follow up on the surgeries I had many years ago?

Submitted by

Individual survey submissions categorised by Health or Social Care Professionals, Organisations representing people with rare musculoskeletal diseases, people with rare musculoskeletal diseases, relatives/carers/friends, Other. For full details of the type of submitter for each individual question, please see the spreadsheet of data held on the JLA website.

PSP information
PSP unique ID	0076
PSP name	Rare Musculoskeletal Diseases in Adulthood
Total number of uncertainties identified by this PSP.	39 (To see a full list of all uncertainties identified, please see the detailed spreadsheet held on the JLA website)
Date of priority setting workshop	18 June 2018