Total hip arthroplasty in osteopetrosis using computer-assisted fluoroscopic navigation

Hybrid total hip arthroplasty with computer-assisted fluoroscopic navigation was performed on a patient with osteoarthritis due to an autosomal dominant form of osteopetrosis. The surgical procedures were difficult because the bone was extremely hard and brittle with obliteration of the medullary cavity. Especially, preparation of a femoral canal for the stem was technically challenging and required changes from a conventional surgical procedure. Therefore, we used a computer-assisted fluoroscopic navigation system to create the femoral cavity for the stem, and an accurate placement of the prosthesis was achieved. Navigation guidance can be a useful tool when performing arthroplasty in patients with hip osteoarthritis associated with osteopetrosis.     

Resurfacing arthroplasty of the hip in osteopetrosis

A 34-year-old woman with a benign form of osteopetrosis developed osteoarthritis of the hip. In order to avoid the difficulties associated with inserting the femoral component of a conventional total hip arthroplasty, a hybrid metal-on-metal resurfacing was performed. There were several technical challenges associated with the procedure, including the sizing of the component, press-fit fixation of the acetabular component and femoral head preparation, as well as trying to avoid a fracture. No surgical complication occurred. After more than a year following surgery, the patient showed excellent clinical function and remained satisfied with the outcome. We conclude that the hybrid metal-on-metal resurfacing arthroplasty represents a valuable option for the treatment of patients with osteopetrosis and secondary hip osteoarthritis.     

Total joint arthroplasty in patients with osteopetrosis: a report of 5 cases and review of the literature

Osteopetrosis, an inherited disorder of bone metabolism, is associated with multiple musculoskeletal complications. Two of these problems, osteoarthritis and periarticular nonunions, may be considered for treatment with total joint arthroplasty. However, there is little information on the early and longer-term results, complications, and technical difficulties related to performing arthroplasty in patients with osteopetrosis. We report the results of 3 total hip arthroplasties and 2 total knee arthroplasties in patients with osteopetrosis. These cases in combination with a literature review provide further insight into results, complications, and technical challenges of performing total joint arthroplasty in patients with osteopetrosis.     

Osteopetrosis is Associated With an Increased Risk for Intraoperative Periprosthetic Fracture in Total Hip Arthroplasty but not in Total Knee Arthroplasty

BackgroundOsteopetrosis is a rare, inherited disorder in which bone remodels to become pathologically dense. There has been a paucity of data evaluating medical and surgical complications following total hip arthroplasty (THA) and total knee arthroplasty (TKA) in this patient population. The objective of this study was to evaluate osteopetrosis as a potential risk factor for medical and surgical complications following THA and TKA.MethodsPatients who had a diagnosis of osteopetrosis and underwent THA or TKA from 2010 to 2020 were identified in a national database. A total of 534 THA and 972 TKA patients who had osteopetrosis were identified and compared with matched cohorts of 2,670 and 4,860 patients, respectively. The rates of postoperative medical and surgical complications, hospital readmissions, and emergency room visits were calculated. In addition, reimbursements and lengths of stay were determined. Osteopetrosis patients were then compared to a 5:1 matched cohort without osteopetrosis using logistic regression analyses to control for additional confounding factors.ResultsThe osteopetrosis THA group had a substantially higher incidence of intraoperative periprosthetic fracture compared to the matched cohort (1.12% versus 0.19%, Odds Ratio 5.88, P = .005). Patients who had a history of osteopetrosis were not found to be at a significantly increased risk for other investigated medical or surgical complications compared to matched controls following THA or TKA.ConclusionPatients who had a history of osteopetrosis undergoing elective primary THA are associated with a significantly increased risk for intraoperative periprosthetic fracture. Patients with a history of osteopetrosis undergoing elective primary TKA were not found to be at an increased risk for any of the investigated complications.     

Case report: A 10 years follow-up of periprosthetic femoral fracture after total hip arthroplasty in osteopetrosis

Osteopetrosis is an inherited disorder characterized by increased bone density and brittle bone quality. Degenerative changes often occur after the age of 40 in patients with osteopetrosis. Operative intervention is the primary treatment option if the clinical manifestation of secondary osteoarthritis is severe. A 44-year-old male suffering autosomal dominant osteopetrosis and progressive unilateral hip osteoarthritis required a total hip arthroplasty. However, there were several technical challenges associated with this procedure including creating a femoral medullary canal and developing a Vancouver type B2 periprosthetic femoral fracture postoperatively. To afford some experience for the management of similar cases, we here present our technical solutions to these problems.     

Total knee arthroplasty in osteopetrosis using patient-specific instrumentation

Osteopetrosis is an uncommon endocrine disease characterized by defective osteoclast resorption of bones. This causes a hard, sclerotic, and brittle bone throughout the skeleton. Fractures and unforgiving subchondral bone are common in this condition, both of which can lead to osteoarthritis. Total knee arthroplasty is often the treatment of choice but presents challenges due to the hard and sclerotic bone present throughout the metaphysis and diaphysis of the femur and the tibia. We present a case of knee osteoarthritis in a patient with osteopetrosis who underwent total knee arthroplasty using patient-specific instrumentation. This technique eliminates intramedullary alignment and minimizes drilling, reaming, and saw passes, making it attractive in the setting of diseases such as osteopetrosis to decrease operative time and potential complications.     

Total Hip Arthroplasty in Patients With Osteopetrosis

BackgroundOsteopetrosis is an inherited bone disease associated with high risk of osteoarthritis and fracture non-union, which can lead to total hip arthroplasty (THA). Bone quality and morphology are altered in these patients, and there are limited data on results of THA in these patients. The goals of this study were to describe implant survivorship, clinical outcomes, radiographic results, and complications in patients with osteopetrosis undergoing primary THA.MethodsWe identified 7 patients (9 hips) with osteopetrosis who underwent primary THA between 1970 and 2017 utilizing our total joint registry. The mean age at index THA was 48 years and included two males and five females. The mean follow-up was 8 years.ResultsThe 10-year survivorship free from any revision or implant removal was 89%, with 1 revision and 1 resection arthroplasty secondary to periprosthetic femoral fractures. The 10-year survivorship free from any reoperation was 42%, with 4 additional reoperations (2 ORIFs for periprosthetic femoral fractures, 1 sciatic nerve palsy lysis of adhesions, 1 hematoma evacuation). Harris hip scores significantly increased at 5 years (P = .04). Five hips had an intraoperative acetabular fracture, and 1 had an intraoperative femur fracture. All postoperative femoral fractures occurred in patients with intramedullary diameter less than 5 mm at a level 10 cm distal to the lesser trochanter.ConclusionPrimary THA in patients with osteopetrosis is associated with good 10-year implant survivorship (89%), but a very high reoperation (58%) and periprosthetic femoral fracture rate (44%). Femoral fractures appear associated with smaller intramedullary diameters.     

A Clinical and Molecular Overview of the Human Osteopetroses

The osteopetroses are a heterogeneous group of bone remodeling disorders characterized by an increase in bone density due to a defect in osteoclastic bone resorption. In humans, several types can be distinguished and a classification has been made based on their mode of inheritance, age of onset, severity, and associated clinical symptoms. The best-known forms of osteopetrosis are the malignant and intermediate autosomal recessive forms and the milder autosomal dominant subtypes. In addition to these forms, a restricted number of cases have been reported in which additional clinical features unrelated to the increased bone mass occur. During the last years, molecular genetic studies have resulted in the identification of several disease-causing gene mutations. Thus far, all genes associated with a human osteopetrosis encode proteins that participate in the functioning of the differentiated osteoclast. This contributed substantially to the understanding of osteoclast functioning and the pathogenesis of the human osteopetroses and will provide deeper insights into the molecular pathways involved in other bone pathologies, including osteoporosis.     

Patient satisfaction following carpal-tunnel decompression: a comparison of patients with and without osteoarthritis of the wrist

The aim of this study was to assess whether surgical decompression for carpal-tunnel syndrome (CTS) in the presence of primary or secondary osteoarthritis of the wrist is associated with poorer patient satisfaction. We did a retrospective matched cohort study. Twenty-four patients who underwent surgical decompression for CTS secondary to osteoarthritis were identified by reviewing the notes and the radiographs. A control group consisted of 24 patients without osteoarthritis of the wrist who underwent carpal-tunnel decompression. The control group was matched for age, sex, side, and neuro-physiological severity of the nerve compression. In the group with osteoarthritis of the wrist, 17 (71%) patients reported their symptom relief as satisfactory, and 7 (29%) reported the results as unsatisfactory. In the control group, 23 (96%) patients reported their symptom relief as satisfactory, and 1 (4%) reported the results as unsatisfactory (P=0.0325). In conclusion, patient satisfaction following surgical decompression in patients with secondary CTS due to osteoarthritis was significantly lower compared to patients without osteoarthritis of the wrist.     

Autologous chondrocyte implantation: where do we stand now?

Chondral damage to the young knee is common. In symptomatic patients current surgical treatment has focused on filling the defect with fibrocartilage; however, this tissue has poor resistance to shear forces, leading to failure and the onset of degenerative osteoarthritis.     

Ligament Injury, Reconstruction and Osteoarthritis

PURPOSE OF REVIEW: The recent literature on the factors that initiate and accelerate the progression of osteoarthritis following ligament injuries and their treatment is reviewed. RECENT FINDINGS: The ligament-injured joint is at high risk for osteoarthritis. Current conservative (e.g. rehabilitation) and surgical (e.g. reconstruction) treatment options appear not to reduce osteoarthritis following ligament injury. The extent of osteoarthritis does not appear dependent on which joint is affected, or the presence of damage to other tissues within the joint. Mechanical instability is the likely initiator of osteoarthritis in the ligament-injured patient. SUMMARY: The mechanism osteoarthritis begins with the injury rendering the joint unstable. The instability increases the sliding between the joint surfaces and reduces the efficiency of the muscles, factors that alter joint contact mechanics. The load distribution in the cartilage and underlying bone is disrupted, causing wear and increasing shear, which eventually leads to the osteochondral degeneration. The catalyst to the mechanical process is the inflammation response induced by the injury and sustained during healing. In contrast, the inflammation could be responsible for onset, while the mechanical factors accelerate progression. The mechanisms leading to osteoarthritis following ligament injury have not been fully established. A better understanding of these mechanisms should lead to alternative surgical, drug, and tissue-engineering treatment options, which could eliminate osteoarthritis in these patients. Progress is being made on all fronts. Considering that osteoarthritis is likely to occur despite current treatment options, the best solution may be prevention.     

Patients with malignant osteopetrosis are at high risk of anesthetic morbidity and mortality.

The anesthetic literature contains no focused discussion of the perioperative management and risks of children with malignant autosomal recessive osteopetrosis (osteopetrosis). We retrospectively analyzed the perioperative morbidity and mortality rates encountered in the anesthetic management of children with osteopetrosis. We compared the perioperative mortality rate for this patient population with that for other pediatric patients in our institution and that reported in the literature for children and other high-risk patients. We also investigated the inability to intubate the tracheas of children with osteopetrosis compared with other pediatric patients in our institution. Using Fisher's exact test, patients with osteopetrosis were found to have a higher likelihood of perioperative mortality compared with other children or all ASA physical status III, but not ASA physical status IV, patients (P < 0.05). Finally, we discovered that children with osteopetrosis were more likely to have tracheas that could not be intubated than other pediatric patients in our institution. We conclude that children with osteopetrosis are at risk of adverse respiratory events and mortality associated with these adverse events. IMPLICATIONS: Osteopetrosis is a rare disease that increases perioperative morbidity and mortality. By performing a retrospective chart review, we found that this increased perioperative morbidity and mortality is primarily related to airway and respiratory factors. Anesthetic management strategies should consider the factors that cause the high frequency of adverse airway events in this patient population.     

Posterior spinal instrumentation and fusion of a neuromuscular scoliosis in a patient with autosomal dominant osteopetrosis

STUDY DESIGN: A case report of a patient with autosomal dominant osteopetrosis and neuromuscular scoliosis who required surgical instrumentation and fusion of her spine. OBJECTIVE: To illustrate the surgical technique and long-term outcome in this rare form of spinal deformity. SUMMARY OF BACKGROUND DATA: Osteopetrosis is a group of rare skeletal dysplasias characterized clinically by skeletal osteosclerosis that is classically described in appearance as "marble bone." Despite the ubiquitous involvement of the vertebra, clinical manifestations of spinal involvement are uncommon. We present the case of an osteopetrotic patient with neuromuscular scoliosis who required surgical correction of her progressive deformity. There are no prior reports in the literature concerning operative or nonoperative management of scoliosis in this patient population. METHODS: The surgical technique utilized as well as the patient's response to surgical management of her scoliosis is presented with 5 year follow-up. RESULTS: The patient underwent a successful T4 to L1 posterior spine fusion and instrumentation using Luque rods, sublaminar wires and allograft bone augmentation. At 5 years following her index procedure, she is clinically and radiographically fused. CONCLUSION: Patients with osteopetrosis present unique surgical challenges during surgical correction of spinal deformities. The use of segmental sublaminar wires with 1/4-inch rods and crosslinks afforded stable fixation despite poor bone quality. Allograft bone combined with postoperative bracing resulted in a well-maintained correction and a solid fusion. Five year follow-up and continued radiographic evidence of stable fusion indicate that the presented approach can lead to a successful outcome in the osteopetrotic patient population.     

High tibial osteotomy for the treatment of unicompartmental arthritis of the knee

Knee axial deformities associated with medial or lateral compartment osteoarthritis can be reliably addressed with high tibial osteotomies. Different surgical techniques can be successfully used for achieving the correction. Whatever the technique used, accurate patient selection and precise surgical procedure are critical to the success of the operation. The authors believe that proximal tibial osteotomy is a valuable procedure to achieve pain relief and to restore knee function in selected patients. Localized knee osteoarthritis of the highly motivated, older, active patient can also be included in the extended indications of the high tibial osteotomy.     

A sequential study of bone lesions caused by isolates of an avian osteopetrosis virus, MAV-2(0)

The pathogenesis of avian osteopetrosis caused by rapid and slow-onset isolates of myeloblastosis associated virus, MAV-2(0), was studied by inoculation of 10-day-old chick embryos with virus. Femur and calvarium were examined at 15, 17 and 19 days in ovo and 7 and 25 days after hatching by histologic and immunoperoxidase techniques. Femur and calvarium were also examined by electron microscopy at 17 and 19 days in ovo and at 7 days after hatching. Avian osteopetrotic bone lesions were characterized by exuberant periosteal proliferation; the time of onset varied with different virus isolates. In the femur virus was first associated with osteoprogenitor cells, then with osteoblasts and finally with osteocytes as the cells progressed through normal sequences of differentiation. The amount of virus produced by these cells did not correlate with onset of periosteal proliferation. Slow onset isolates provoked early virus production, but proliferative lesions did not develop until later. Conversely, the rapid onset isolate induced little early virus production, although lesions were present. Periosteal proliferation was associated with and preceded by perivascular edema and perivascular cell necrosis within the bone cortex following infection by all isolates. However, the rapid onset isolate caused more severe lesions than other isolates. These lesions included vascular thrombosis, capillary necrosis and focal bone necrosis. The relationship between early vascular lesions and late periosteal proliferation seen with the slow onset isolates is not as clear as with the rapid onset isolate. Calvarial bone, a representative flat bone, was found to have virus present, but at a level less than the femur. Vascular lesions were rarely seen in the calvarium and bone proliferation did not occur at this site.     

Limited rescue of osteoclast-poor osteopetrosis after successful engraftment by cord blood from an unrelated donor.

We report on a case of osteoclast-poor osteopetrosis who received a hematopoietic stem cell graft and, despite hematological engraftment, showed little signs of response in the skeletal defect. Clinical and laboratory studies supported the concept that the bone microenvironment remained abnormal, thus reducing the clinical response to transplantation. INTRODUCTION: Osteopetrosis is a rare genetic disorder characterized by severely reduced bone resorption resulting from a defect in either osteoclast development (osteoclast-poor osteopetrosis) or activation (osteoclast-rich osteopetrosis). Patients with osteoclast-rich osteopetrosis can be rescued by allogenic hematopoietic stem cell transplantation; however, little information exists concerning the success of transplantation as a treatment for osteoclast-poor osteopetrosis. We report on a child with osteoclast-poor osteopetrosis whose diagnosis was delayed, consequently receiving a cord blood transplant from an unrelated donor at the age of 8 years. Engraftment was deemed successful by peripheral blood genotyping, although >3 years after transplantation there was little rescue of the skeletal defect and anemia, and extramedullary hematopoiesis persisted. MATERIALS AND METHODS: Peripheral blood mononuclear cells from the osteopetrosis patient, before and after transplantation, were used to generate osteoclasts in vitro in the presence of macrophage colony-stimulating factor (M-CSF) and RANKL. RESULTS: Before transplantation few, small mononuclear osteoclasts formed (F-actin ring-positive cells, co-localizing with vitronectin receptor [alphavbeta3 integrin] and TRACP) associated with occasional, small resorption lacunae. Low levels of collagen C-terminal telopeptide (CTx) fragments were released from these cultures as assessed by ELISA (CrossLaps; patient, 12.85 nM; control, 448.6 nM). In contrast, osteoclasts formed in cultures after transplantation formed to a similar degree to control cultures from healthy individuals: large numbers of osteoclasts containing numerous nuclei were present, and approximately 50% of the surface of bone slices was resorbed, associated with intermediate levels of collagen fragment release (116.48 nM). The culture data reflect the histopathology and radiological findings and also support previous studies showing that neither M-CSF nor RANKL rescues osteoclast-poor osteopetrosis. CONCLUSIONS: This is the first case reported in which a successful hematopoietic engraftment failed to correct an osteopetrotic skeletal defect, and this finding may be credited to the age at which the child was transplanted.     

Optic nerve decompression for osteopetrosis in early childhood

Visual failure in osteopetrosis may result from retinal degeneration or compression of the optic nerve in the narrowed optic canals. We report the evaluation and treatment of five children with osteopetrosis whose optic nerve dysfunction seems to have been related to the latter etiology. Evaluation of visual function was carried out by means of behavioral observation and flash visual evoked responses. Of six nerves evaluated both pre- and postoperatively, the visual evoked responses seemed to improve in four. Three nerves were serially evaluated without an operation, and one showed changes consistent with maturation. One nerve was evaluated with serial postoperative evoked potentials and showed no change. We conclude that surgical decompression of the optic nerve in patients with documented optic nerve dysfunction and osteopetrosis allows improvement in visual function and is, therefore, an important consideration in the evaluation and management of patients with this disease.     

The relationship between facet joint osteoarthritis and disc degeneration of the lumbar spine: an MRI study

The role of MRI in assessing facet joint osteoarthritis is unclear. By developing a grading system for severity of facet joint osteoarthritis on MRI, the relationship between disc degeneration and facet joint osteoarthritis was determined. The accuracy of MRI in assessing facet joint osteoarthritis against CT was 94%. Under 40 years of age, the degree of disc degeneration varied among individuals. Over the age of 60, most of the discs were markedly degenerated. Under 40 years of age osteoarthritic changes in facet joints were minimal. Over the age of 60, variable degrees of facet joint osteoarthritis were observed but some facets did not show osteoarthritis. No facet joint osteoarthritis was found in the absence of disc degeneration and most facet joint osteoarthritis appeared at the intervertebral levels with advanced disc degeneration. Disc degeneration is more closely associated with aging than with facet joint osteoarthritis. The present study supports the hypothesis that “disc degeneration precedes facet joint osteoarthritis”, and also supports the concept that it may take 20 or more years to develop facet joint osteoarthritis following the onset of disc degeneration. Received: 1 March 1999 Revised: 27 May 1999 Accepted: 4 June 1999