Total Joint Arthroplasty in Patients with Osteopetrosis: A Report of 5 Cases and Review of the Literature

doi:10.1016/j.arth.2004.11.015

The Journal of Arthroplasty

Volume 20, Issue 6, September 2005, Pages 815-820

https://doi.org/10.1016/j.arth.2004.11.015 Get rights and content

Abstract

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.

Section snippets

Case 1

A 45-year-old woman with osteopetrosis was referred for treatment of nonunion of a left intertrochanteric femur fracture. The initial fracture had occurred 2 years before her visit and had been treated with open reduction and internal fixation (ORIF). She next had been treated with a second ORIF with autogenous grafting and demineralized bone matrix. She had been placed in a hip spica cast and remained in this for 7 months and received electrical stimulation, but the fracture again failed to

Case 2

A 47-year-old man with osteopetrosis diagnosed at age 10 years presented with progressively worsening symptoms of osteoarthritis of the right hip. His past orthopedic history included a fracture of his proximal femur treated with ORIF and a fracture of his humerus. Over the previous 5 years, he had increasing right hip pain that has reduced his daily functional activities. He could walk only one block despite treatment with nonsteroidal anti-inflammatory agents.

On physical examination he had a

Case 3

A 41-year-old woman with osteopetrosis presented with left hip pain. She was diagnosed with osteopetrosis at age 7 years after sustaining a fracture of her hip. She had had more than 40 fractures during her lifetime. Most recently she had sustained a left femoral neck fracture that had not united and had been treated subsequently with valgus intertrochanteric femoral osteotomy. At presentation, neither the osteotomy nor the femoral neck fracture was healed. Pain in the left hip area had

Case 4

A 68-year-old woman with osteopetrosis presented with 15 years of bilateral knee pain worse on the left. The pain markedly limited her walking capacity, gave her difficulty with stairs, and interfered with her sleep.

On physical examination, the patient had a varus deformity of 13°. She had an antalgic gait. Knee flexion was 0° to 105°. Radiographs revealed osteopetrosis and osteoarthritis of the knee with varus knee alignment.

A left cemented total knee arthroplasty (TKA) was performed (Total

Case 5

A 42-year-old woman presented with many years of right knee pain and progressive valgus deformity of the right knee. The pain interfered with her sleep and limited her walking capacity. She had difficulty with stairs.

On physical examination, the patient had a valgus deformity of approximately 20°. She had an antalgic gait. Knee ROM was −20° of extension to 120° of flexion. Radiographs revealed osteopetrosis and osteoarthritis of the knee with valgus knee alignment (Fig. 3A). A left cemented

Discussion

Patients with osteopetrosis are at risk for osteoarthritis and periarticular nonunions recalcitrant to treatment. In some cases, few potential treatment options other than total joint arthroplasty are available for these patients. However, to date, the very limited number of reported arthroplasty cases in patients with this disease provides sparse information about the results, complications, and technical challenges of lower extremity arthroplasty.

The 5 cases reported here, in combination with

Summary

These case reports and the few previously published cases demonstrate that total joint arthroplasty can be used successfully to treat hip and knee arthritis and periarticular hip nonunion in patients with osteopetrosis. These cases also highlight the technical difficulties associated with total joint arthroplasty in patients with osteopetrosis. Operative time is increased secondary to hard sclerotic bone and the frequent lack of a normal medullary canal.

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Osteopetrosis is Associated With an Increased Risk for Intraoperative Periprosthetic Fracture in Total Hip Arthroplasty but not in Total Knee Arthroplasty
2023, Journal of Arthroplasty
Osteopetrosis 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.
Patients 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.
The 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.
Patients 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.
Progressive skeletal defects caused by Kindlin3 deficiency, a model of autosomal recessive osteopetrosis in humans
2022, Bone
Citation Excerpt :
The sandwich vertebrae in embryonic Kindlin3-deficient mice is predictive of lumbar strain, or stenosis of vertebral arteries in humans, which would require careful diagnosis followed by physical therapy [64]. The characteristic bone-in-bone appearance of the osteopetrotic pelvis can lead to pain and restriction during active and passive range of motion of the hip, and in some instances, hip osteoarthritis [65,66]. Hence, even if patients with milder LAD-III survive through childhood, the manifestations of ARO are expected to become severe in adulthood.
The cellular and molecular mechanisms of bone development and homeostasis are clinically important, but not fully understood. Mutations in integrins and Kindlin3 in humans known as Leukocyte adhesion deficiencies (LAD) cause a wide spectrum of complications, including osteopetrosis. Yet, the rarity, frequent misdiagnosis, and lethality of LAD preclude mechanistic analysis of skeletal abnormalities in these patients. Here, using inducible and constitutive tissue-specific Kindlin3 knockout (K3KO) mice, we show that the constitutive lack of embryonic-Kindlin3 in myeloid lineage cells causes growth retardation, edentulism, and skull deformity indicative of hydrocephaly. Micro-CT analysis revealed craniosynostosis, choanal stenosis, and micrognathia along with other skeletal abnormalities characteristic of osteopetrosis. A marked progression of osteosclerosis occurs in mature to middle-aged adults, resulting in the narrowing of cranial nerve foramina and bone marrow cavities of long bones. However, postnatal-Kindlin3 is less critical for bone remodeling and architecture. Thus, myeloid Kindlin3 is essential for skeletal development and its deficiency leads to autosomal recessive osteopetrosis (ARO). The study will aid in the diagnosis, management, and treatment choices for patients with LAD-III and ARO.
Successful total hip arthroplasty for patient with TCIRG1-associated autosomal recessive osteopetrosis
2022, International Journal of Surgery Case Reports
Autosomal recessive osteopetrosis (ARO) is a group of disease characterized by osteoclast dysfunction inhibiting bone resorption and bone turnover, with TCIRG1-associated ARO leading to autosomal recessive infantile malignant osteopetrosis (OPTB1, MIM entry number # 259700). While most patients with TCIRG1-associated osteopetrosis present a malignant clinical course and shortened lifespan, a few cases of mild osteopetrosis associated with TCIRG1 have been reported recently. In this study we report a rare case of non-malignant TCIRG1-associated osteopetrosis, with detail clinical characterization, genetic analysis and underwent successful total hip replacement surgery.
24-year-old female patient came to us with limp gait, hip pain in both sides, severe stiffness. She suffered multiple fractures, bilateral hip osteoarthritis, right leg was 2 cm shorter compared with left leg. The patient had a limp gait due to severe pain and leg length discrepancy.
Whole Exome Sequencing, result of genetic analysis shown the patient had a compound heterozygous genotype at TCIRG1 (c.1194dup, p.Gly399ArgTer and c.334G > A, p.Gly112Arg). Total hip replacement was performed. The joint exposure and femoral canal reaming was difficult due to complete deformity of femoral head, loss of canal and high bone density. Post-operation period was uneventful; the patient rehabilitated as planned without further complication.
This is the first case of TCIRG1-associated osteopetrosis reported in Vietnam and one of the few cases of non-malignant TCIRG1-associated osteopetrosis. This case report suggests that total hip replacement is a viable option for the treatment of hip osteoarthritis in patients with mild form osteopetrosis.
Complications of total hip arthroplasty for patients with osteopetrosis: A report of four hips in two patients
2022, Journal of Orthopaedic Science
Total Hip Arthroplasty in Patients With Osteopetrosis
2021, Journal of Arthroplasty
Citation Excerpt :
Instrumentation typically involves drilling, burring or reaming, with avoidance of broach techniques. High speed burrs [5,11], drilling [4,7,11,18], reaming [6,7,11], fluoroscopic assistance [5,12,17], custom stem and broach technique [12], and even the use of an extended trochanteric osteotomy (ETO) [15] to help create a bony cavity for the stem, have all been reported in the literature. The use of fluoroscopy was routinely used in this cohort for guiding femoral preparation.
Osteopetrosis 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.
We 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.
The 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.
Primary 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.
Bilateral Posterior-Stabilized Total Knee Arthroplasty in a Patient With Osteopetrosis and Literature Review
2020, Arthroplasty Today
We present a case report of a patient with osteopetrosis and refractory bilateral knees osteoarthritis who underwent bilateral total knee arthroplasties (TKAs). After conservative management has failed, surgical treatment with arthroplasty is an excellent alternative with satisfactory outcomes. TKA in patients with osteopetrosis has only been described in 6 other case studies, none of which underwent bilateral TKA. To perform this procedure, additional attention should be directed toward the presurgical planning because of the amplified difficulty of the procedure and the altered bone biology that increases the risks of intraoperative fractures and markedly extends the time of surgery. This report describes a case of osteopetrosis with refractory osteoarthritis managed with bilateral TKA, the surgical technique and special considerations, complications, and future recommendations.

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Case ReportTotal Joint Arthroplasty in Patients with Osteopetrosis: A Report of 5 Cases and Review of the Literature

Abstract

Section snippets

Case 1

Case 2

Case 3

Case 4

Case 5

Discussion

Summary

Am J Hum Genet

Rottgenbilder einer seltenen Knochenerkrankung

MMW Münch Med Wochenschr

Osteopetrosis

Am Fam Physician

Fracture patterns in two types of autosomal dominant osteopetrosis

Acta Orthop Scand

Autosomal dominant osteopetrosis

Clin Orthop

Orthopedic management of osteopetrosis: results of a survey and review of the literature

J Pediatr Orthop

Total hip arthroplasty in osteopetrosis: a report of two cases

Clin Orthop

Case Report
Total Joint Arthroplasty in Patients with Osteopetrosis: A Report of 5 Cases and Review of the Literature