Total Hip Arthroplasty Reduces Pain and Improves Function in Patients With Spondyloepiphyseal Dysplasia: A Long-Term Outcome Study of 50 Cases

Abstract

Background: Spondyloepiphyseal dysplasia (SED) is rare genetic condition which leads to skeletal and joint deformities that can predispose patients to degenerative joint disease. There are limited reports on the results of total hip arthroplasty (THA) in this patient population. The purpose of this study is to review clinical and radiographic outcomes of THA performed in patients with SED at one institution. Methods: Among 43,917 patients undergoing primary THA from 1970 to 2015, we identified 50 THAs performed in 29 patients with SED; 21 patients underwent bilateral THA (none simultaneous). There were 16 females and 13 males; mean age, body mass index, and height were 39 years, 28.7 kg/m2, and 145 cm, respectively. All patients were able to ambulate prior to the THA. Mean follow-up was 11 years (range 2–38). Results: Mean implant survival for primary THA in SED patients at the 5, 10, and 20-year time points was 96%, 85%, and 55%, respectively. Thirteen patients required revision THA, most commonly for polyethylene wear (n = 6) and aseptic loosening (n = 5), and 4 additional patients underwent nonrevision reoperations. Prior to surgery, 90% of patients had severe or moderate pain, which was reduced to 8% of patients postoperatively (P < .001). Mean Harris Hip Score improved from 47 to 87 (P < .001). Prior to surgery, 64% of patients required gait aids, which reduced to 34% postoperatively (P < .001). Conclusion: THA provided significant pain reduction and improvement in function, with a majority of patients ambulating independently following the procedure. There was a high incidence of complications following THA in patients with SED, most commonly secondary to polyethylene wear and osteolysis from conventional polyethylene and historical implants.

Health-related Quality of Life in Adult Patients with Multiple Epiphyseal Dysplasia and Spondyloepiphyseal Dysplasia

“…Based on relatively large cohorts reported by two groups, the average age at the time of total hip arthroplasty was under 40 years, i.e., 32 years in MED patients 19 ) and 39 years in SED patients. 20 ) In both groups, arthroplasty reduced pain and improved QoL in patients with skeletal dysplasia, but the quantitative outcomes were less marked than those reported after arthroplasty in patients without these skeletal dysplasias because of the high incidence of complications related to these conditions. To delay the onset of premature osteoarthritis, various osteotomies have been indicated for correcting deformities.…”

Bilateral Femoral Neck Pseudarthrosis in an Adolescent Girl With Congenital Spondyloepiphyseal Dysplasia. The Treatment Journey

“…The progressing pathology of the hip in patients with SED renders arthroplasty an almost inevitable part of the treatment plan, at a time defined after regular follow-up. In a retrospective study 12 , THA demonstrated notable pain relief and functional improvement, leading to the majority of patients being able to walk independently post-surgery. However, patients with SED experienced a significant rate of complications while the mean age was 39 (16-79) years and 12 patients (24%) underwent at least 1 surgical intervention on the same hip.…”

Total Knee Arthroplasty in Spondyloepiphyseal Dysplasia with Irreducible Congenital Dislocation of the Patella: Case Report and Literature Review

“…4,7,8 There are only few reports demonstrating significant pain reduction, improved function, and independent movement following total hip arthroplasty in patients with spondyloepiphyseal dysplasia. 3,9 Each type of skeletal dysplasia has its own unique pathological characteristics. However, none of the available studies evaluating total knee arthroplasty in multiple forms of skeletal dysplasia describe the surgical technique in patients with spondyloepiphyseal dysplasia.…”

“… 2 Abnormal bone and joint development, in conjunction with altered biomechanics, predisposes spondyloepiphyseal dysplasia patients toward the premature development of osteoarthritis, especially in hip and knee joints. 3 , 4 In the case of children, joint preservation techniques, including osteotomies to achieve an upper femur and sagittal spinopelvic radiographic alignment, are recommended to improve hip pain and range of motion. 5 However, alterations in development, anatomy, and biomechanics may require joint replacement surgery during the young adult age.…”

“… 4 , 7 , 8 There are only few reports demonstrating significant pain reduction, improved function, and independent movement following total hip arthroplasty in patients with spondyloepiphyseal dysplasia. 3 , 9 …”