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Hip Arthroplasty in Patients with Osteogenesis Imperfecta
Abstract
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Osteogenesis imperfecta (OI) is a rare congenital disorder that affects connective tissue.
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Modern medicine has mitigated the mortality that is associated with OI, allowing patients to live a near-normal life span.
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The degenerative process in OI is probably accelerated because of subclinical intra-articular fractures, joint laxity, and distorted femoral and acetabular anatomy.
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Total hip arthroplasty is seldom performed in patients with OI; it is technically difficult due to bone fragility, deformity, soft-tissue alteration, acetabular protrusion, the risk of intraoperative and postoperative fractures, and joint laxity.
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This review highlights that patients with OI need hip arthroplasty procedures at an early age and that early revision surgery can be expected. New-generation uncemented implants may improve implant survivorship.
... The literature on total hip arthroplasties (THA) in patients with OI is limited to case reports or very small series [11,29,[34][35][36][37][38][39][40][41][42][43][44][45][46][47]. Papagelopoulos and Morrey [29] first reported in 1993 the results of five THA performed in four patients which were identified on 203 patients with OI from 1969 to 1990. ...
... Patients with preoperative acetabular protrusion were significantly more likely to require revision surgery. In 2021, Sekeitto et al. [47] reported, through a systematic review of the literature, only 31 cases of primary THA and 19 cases of THA revisions. The mean age of the patients who had a primary THA was 50 years (range 14-66) and the main indications were osteoarthritis and fracture. ...
Osteogenesis imperfecta is a genetic disorder, mainly characterized by bone fragility. In adult with osteogenesis imperfecta, surgical treatment may be indicated as an emergency procedure in the event of a fracture, or as a scheduled procedure in case of patient functional impairment due to many causes, such as persistent pain, complex bone deformities, and degenerative arthropathies. In all cases, a multidisciplinary approach is recommended. It is essential to consider the patient’s characteristics and expectations regarding treatment, as well as the local conditions, which may be complex due to the poor bone quality, bone deformity, and the presence of hardware implanted during childhood. The procedure can be very complex and challenging and each patient is a unique case. An accurate preoperative planning is mandatory to select the appropriate surgical technique, which can be either conservative or prosthetic, and to evaluate its feasibility and the risk–benefit ratio. The aim is to improve the patient’s quality of life and autonomy as long as possible.
Zusammenfassung
Skelettdysplasien sind häufig assoziiert mit einem hohen Risiko für Gelenkschäden und Arthrose insbesondere der großen Gelenke. Ursache sind je nach Erkrankung in unterschiedlichem Ausmaß sowohl die unterliegenden Stoffwechselstörungen selbst als auch die assoziierten Deformierungen mit konsekutiv häufig unvorteilhafter biomechanischer Belastungssituation. Dadurch ergibt sich bei diesen Patienten regelhaft die Indikation für eine endoprothetische Versorgung und damit verbunden die Frage, ob und wie bzw. unter welchen Voraussetzungen eine solche sicher und nachhaltig durchgeführt werden kann. Wesentliche Herausforderungen in Abweichung von der sonstigen endoprothetischen Routineversorgung sind in diesem Kontext die regelhaft veränderten anatomischen und biomechanischen Verhältnisse, häufig mit Kleinwuchs und der Notwendigkeit entsprechend dimensionierter und ggf. auch anatomisch konfigurierter Implantate. Hinzu kommen erforderliche Überlegungen zu den jeweils geeigneten Möglichkeiten der knöchernen Verankerung vor dem Hintergrund der oftmals kompromittierten Knochenbiologie, verbunden mit der Frage nach perioperativen Verbesserungsmöglichkeiten. Regelhaft müssen dabei auch die Folgen und Implikationen aus früheren Interventionen mit berücksichtigt werden. Dabei gilt es, perspektivisch auch die individuell und erkrankungsspezifisch divergierenden Limitationen bzgl. der postoperativen Rehabilitation und prognostisch absehbare weitere Operationen frühzeitig in die Überlegungen mit einzubeziehen. Am Beispiel vergleichsweise häufiger Skelettdyslasien wie der Osteogenesis Imperfecta (OI), der Hyspophosphatasie (HPP) und der X-chromosomalen Hypophosphatasie (XLH) werden im Folgenden konkrete Überlegungen und Konzepte in diesem Zusammenhang dargestellt und diskutiert.
Osteogenesis Imperfecta is an inherited disease characterized by easily-broken bones, which manifests as multiple fractures with minimal trauma, joint laxity, sclerosis, blue sclera, and several other manifestations. Protrusio acetabuli is defined as the displacement of the femoral head so that it lies medial to the ischioilial line. In a skeletally mature patient with both Marfan syndrome and PA, an eventual hip arthroplasty is the only method available for correction of the deformity. However, in patients with Osteogenesis Imperfecta and PA, THA remains a controversial treatment. A 14-year-old male patient diagnosed with Osteogenesis Imperfecta Type 1A presented to the orthopedic surgery clinic complaining of groin pain of 1-year duration radiating to the thigh and knee. The patient was found to have radiologic signs of protrusion acetabuli. The patient was started with bisphosphonate and after medical failure, underwent a Total Hip Arthroplasty (THA). In post-operative follow-ups, the patient had relief of pain and was able to walk more comfortably and without a lump. The previously operated hip was examined and showed no signs of infection, dislocation, or fracture. Radiographic studies show no evidence of prosthesis failure or loosening with valgus position of the femoral stem and neutral acetabular angle. Ten years after the primary arthroplasty, the previously operated hip had maintained its stability and had no related complications. Despite the controversy surrounding the treatment of younger patients with hip failure, using total hip arthroplasty, this patient exhibited excellent results, with vast improvement in their symptoms and stability.
Introduction
Osteogenesis imperfecta (OI)-related femoral neck fractures are rare. This is rarely described in the literature. This article presents a way to surgically treat such a fracture.
Case Report
We describe the case of a 52-year-old patient with OI Type III with a displaced femoral neck fracture with varus deformity. We performed a hemiarthroplasty of the hip with valgus and shortening osteotomy of the proximal femoral shaft.
Conclusion
The incidence of OI is 1 in 10,000—,000 births. People suffering from OI are known to be at more risk of fractures. Due to the bone deformity and weakness, treatment of fractures in patients with OI is a big challenge for orthopedic surgeons. Combined osteotomy and hemiarthroplasty is a reliable technique to treat a femoral neck fracture in a patient with typical OI-related varus deformity of the femora.
Osteogenesis imperfecta (OI) is a rare congenital disease characterized by alterations in bone quality, with susceptibility to fractures, instability, deformities, and osteoarthrosis. Prosthetic surgery in these patients is associated with an abnormally high rate of implant failures. On the other hand, abnormal bone fragility adds to the complexity of revision surgery in such individualsdthus representing a genuine challenge for the orthopaedic surgeon. We present a case of femoral reconstruction in a patient with OI and prosthetic loosening after reconstruction secondary to femoral septic pseudoarthrosis. Intra-medullary total femoral reconstruction was carried out after exceeding the biological reconstruction limits. This is the first reported instance of the use of an intramedullary total femur arthroplasty as salvage technique in an OI patient. This technique should be considered when we have exceeded biological limits for femoral fixation.
Osteogenesis imperfecta is a rare genetic disorder that presents with heterogeneous phenotypes ranging from brittle bones to impaired hearing. Because of the decreased bone mineral density frequently observed in this patient population, many patients experience recurring and long-term fractures, which often require orthopaedic management. With the advancement of nonsurgical and surgical management and increased longevity of patients with osteogenesis imperfecta, the incidence of osteoarthritis has risen, presenting new orthopaedic challenges. However, compromised bone integrity and size combined with frequent existing hardware render traditional surgical therapies for osteoarthritis technically challenging in this patient population. In this report, we present a case in which we retained a portion of the patient's existing hardware, while performing staged bilateral custom hemiarthroplasties in a patient with osteogenesis imperfecta.
Due to an increasing lifespan, patients with osteogenesis imperfecta have a high incidence of hip osteoarthritis. The presence of recurrent fractures and deformities make primary and particularly revision total hip arthroplasty challenging. We present a series of patients with osteogenesis imperfecta undergoing total hip arthroplasty at a tertiary referral centre with a median follow-up of 7.6 years (4 to 35 years). There were four primary total hip arthroplasties and eight revision total hip arthroplasties performed in four patients. Three femoral components were custom computer assisted design computer assisted manufactured. The survival rate of the primary total hip arthroplasty was 16% and there were ten complications: five intraoperative fractures, one case of septic loosening and four cases of aseptic loosening. Patients with pre-operative acetabular protrusio were significantly more likely to require revision surgery (p = 0.02).
At latest follow-up, the median Oxford hip score was 41 (37 to 46). As the largest series of primary and revision total hip arthroplasty performed in patients with osteogenesis imperfecta, we report good medium to long-term outcomes. Pre-Operative planning and consideration of custom made prostheses have an important role in these complex cases.
Osteogenesis imperfecta (OI) is the most common bone genetic disorder and it is characterized by bone brittleness and various degrees of growth disorder. Clinical severity varies widely; nowadays eight types are distinguished and two new forms have been recently described although not yet classified. The approach to such a variable and heterogeneous disease should be global and therefore multidisciplinary. For simplicity, the objectives of treatment can be reduced to three typical situations: the lethal perinatal form (type II), in which the problem is survival at birth; the severe and moderate forms (types III-IX), in which the objective is 'autonomy'; and the mild form (type I), in which the aim is to reach 'normal life'. Three types of treatment are available: non-surgical management (physical therapy, rehabilitation, bracing and splinting), surgical management (intramedullary rod positioning, spinal and basilar impression surgery) and medical-pharmacological management (drugs to increase the strength of bone and decrease the number of fractures as bisphosphonates or growth hormone, depending on the type of OI). Suggestions and guidelines for a therapeutic approach are indicated and updated with the most recent findings in OI diagnosis and treatment.
Osteogenesis imperfecta (OI) is a rare group of connective tissue disorders commonly associated with bone fragility, deformity, and fractures, leading to instability and early osteoarthritis. Current advancements in the medical and surgical management of OI have extended the life span of these patients, resulting in an increased need for joint arthroplasty to help maintain quality of life. However, surgery among this patient population is technically challenging and comes with a high burden of revision. In this report, we present a case of revision total hip arthroplasty in a patient with OI and review important considerations to help ensure proper preoperative planning and correct precautions to minimize complications and decrease implant failure.
Introduction
Osteogenesis imperfecta (OI) comprises a spectrum of disorders that result in bone fragility. This presents unique challenges when performing total joint arthroplasty in patients with OI. The purpose of this study was to determine the survivorship and clinical outcomes of total hip arthroplasty (THA) in patients with OI.
Methods
We retrospectively reviewed our institution’s total joint registry from 1969-2018 for all primary THAs in patients with a history of OI. There were 11 patients (13 hips) with a mean follow-up of 13 years (range, 6-20 years). Survivorship free of component revision was determined using Kaplan-Meier analysis. Patient reported clinical outcomes were assessed using Harris Hip Scores.
Results
At final follow-up, the status of the implant was known in all 13 hips. One patient (one hip) was deceased. Four hips (31%) underwent revision surgery at a mean of 9 years (range, 5-17 years). Survivorship free of component revision was 52% at 20 years. Mean Harris Hip Scores at final follow-up were fair (75, 47-97), but significantly improved compared to available preoperative scores (p=0.0015). No intraoperative complications occurred during the 13 primary THAs.
Discussion and Conclusions
THA in patients with OI is associated with high revision rates and low survivorship at long-term follow-up. Although this is a very challenging patient population, THA provided these patients with improved functional outcomes. To the authors’ knowledge, this is the largest series of primary THA in patients with OI reported in the literature and therefore provides surgeons with important data regarding the expected outcomes following THA in this unique patient population.
Level of Evidence
Level IV
Osteogenesis imperfecta is a heritable group of collagen-related disorders that affects up to 50,000 people in the United States. Although the disease is most symptomatic in childhood, adults with osteogenesis imperfecta also are affected by the sequelae of the disease. Orthopaedic manifestations include posttraumatic and accelerated degenerative joint disease, kyphoscoliosis, and spondylolisthesis. Other manifestations of abnormal collagen include brittle dentition, hearing loss, cardiac valve abnormalities, and basilar invagination. In general, nonsurgical treatment is preferred for management of acute fractures. High rates of malunion, nonunion, and subsequent deformity have been reported with both closed and open treatment. When surgery is necessary, surgeons should opt for load-sharing intramedullary devices that span the entire length of the bone; locking plates and excessively rigid fixation generally should be avoided. Arthroplasty may be considered for active patients, but the procedure frequently is associated with complications in this patient population. Underlying deformities, such as malunion, bowing, rotational malalignment, coxa vara, and acetabular protrusio, pose specific surgical challenges and underscore the importance of preoperative planning.
Osteogenesis imperfecta is an incurable genetic disorder manifested with altered bone quality that predisposes patients to a multitude of fractures throughout their lives, including acetabular fractures. The management of acetabular fractures in patients with osteogenesis imperfecta remains a challenging clinical problem, with a paucity of literature supporting treatments and their outcomes. Limited reports in the literature validate the use of total hip arthroplasty (THA) in patients with osteogenesis imperfecta, and they describe the adult population only.
This article describes a case of delayed diagnosis of a transverse acetabular fracture and femoral head impaction fracture that led to posttraumatic end-stage hip osteoarthritis in a 16-year-old boy with osteogenesis imperfecta (Sillence Type I) that was sustained after minimal trauma. Clinical examination 3 months postinjury revealed a significant pelvic obliquity, severe pain with hip range of motion, and limited hip range of motion. Imaging studies revealed a complete loss of articular cartilage and significant joint effusion.
The patient underwent THA. No postoperative complications occurred. Two-year follow-up showed an excellent clinical result. The patient’s hip was pain free, and he was able to walk with no limp.
The authors are unaware of any reported cases of children with osteogenesis imperfecta undergoing THA. Based on the reported literature and the authors’ experience, THA can be a reliable surgical option for patients with osteogenesis imperfecta.
Osteochondrodysplasias are characterised by aberrant cartilage and bone development; consequently, patients may be subject to premature hip degeneration. In this population hip arthroplasty outcomes are variable. This series reviews the use of custom femoral implants in total hip replacements for patients with severe skeletal dysplasia.
We reviewed 14 hips in nine patients with genetic dwarfism. Computed tomography (CT) scans of the pelvis and femurs were used to create custom titanium stems. Postoperative radiographs were reviewed for migration, osteolysis, fracture and restoration of leg length. Pre- and postoperative Harris hip scores (HHS) were compared, with a mean follow-up of 36.3 months. Mean age was 36.5 years (range 15-50 years) and mean height was 48 inches (range 42-55 inches). Three joints were classified as Crowe type I, two type II, three type III and six type IV.
Three hips (21%) required revision: two for stem migration and one for acetabular osteolysis. Eleven hips (79%) were stable with signs of osseointegration. No fractures, nerve damage or dislocations occurred. Two stems required cement fixation, and no liners were constrained. Significant osteolysis was seen on three radiographs. All patients walked independently, and mean HHS improved from 45 (24-58) to 71 (47-89). All leg length discrepancies were restored to within 3 mm of equal.
This study reports good midterm outcomes in a variety of skeletal dysplasias, thus confirming the efficacy of custom femoral implants in the management of this patient group.
Osteogenesis imperfecta (OI) represents a spectrum of genetic diseases affecting the formation and packaging of collagen. Clinically, it manifests itself in structurally inferior bone and soft tissue quality. We present a case of a 47 year-old woman with osteogenesis imperfecta who, as a result of a fall from sitting, sustained an associated both column acetabular fracture, ultimately, undergoing a single-stage pelvic and hip joint reconstruction via open reduction internal fixation (ORIF) and total hip arthroplasty (THA). Preoperative, anticipatory planning concerning intra- and post-operative blood management due to coagulatory defects found in OI patients were paramount in a successful, uncomplicated hospital course. Finally, formation hypertrophic callus or heterotopic ossification (HO) formation can be expected in OI patients, offering further stability and additional bony purchase, if needed for future reconstruction. This is the only case reported in the literature of using combination of THA and ORIF for fixation of an acetabular fracture for a patient with OI.
Osteogenesis imperfecta is a rare inherited disorder of connective tissue which may present with recurrent fractures which are prone to nonunion and malunion resulting in deformity. Some patients develop osteoarthritis of the hip. Formation of hyperplastic callus after recurrent fractures may deform the shape of the femur and preclude the use of standard implants at joint replacement. Replacement can thus be technically demanding.
We present a case of bilateral hip replacement in a patient with osteogenesis imperfecta and hyperplastic callus which was treated by the use of long femoral allografts and cemented femoral stems.
Five total hip and three total knee arthroplasties were performed, from 1969 to 1990, in six patients who had osteogenesis imperfecta. The patients who had a hip arthroplasty were followed for a mean of seven years, and those who had a knee arthroplasty, for a mean of ten years. Postoperatively, all had relief of pain and were able to walk; one patient used a walker and two used a cane. The only postoperative complication was an intrapelvic protrusion of the acetabular component six years after a bipolar hip replacement.