Inheritance patterns, challenges, and outcomes of fracture management in osteopetrosis patients. CASE series and review of pertinent literature

Abstract

BackgroundOsteopetrosis (OP) is a group of rare inheritable genetic disorders which show increased bone radiodensity on radiography. As no cure exists, careful symptomatic treatment is the mainstay in management due to brittle bone and frequent complications. We would like to present a case series of OP patients, their management, a review of literature about this rare disease and its genetic and inheritance patterns.Materials and methodsRetrospective case series of 6 patients with OP seen at our institution from 2010 to January 2018. We searched PubMed and Google Scholar for articles using the following keywords: Osteopetrosis, Radiology, Fracture and Management to review literature.Cases presentationWe present 6 cases of OP each showing diverse history of frequent fractures and describe the challenges faced during management and the long-term follow-up results.ResultsAbnormal osteoclast activity in OP results in defective bone resorption with patients having varied clinical presentations. Bones are brittle, increasing risk of fractures. Osteosynthesis is the recommended first-choice treatment for osteopetrotic fractures despite the risk of failure. Good preoperative planning is critical. Genetic studies showed multiple genes to be involved and varied patterns of inheritance in different types of OP. Conservative management could including varied therapies has also been proposed.ConclusionWith all-inclusive preoperative planning and careful postoperative care surgical treatment of fractures in OP is effective. The cases presented showed that plate osteosynthesis and intramedullary nailing are suitable options. Genetic factors and inheritance pattern should be discussed with patients.

Treatment for subtrochanteric fracture and subsequent nonunion in an adult patient with osteopetrosis: A case report and review of the literature

“…Further adding to the plight, the standards and principles for the treatment of fractures in patients with osteopetrosis are not yet clearly formulated[ 7 ]. Armstrong et al [ 8 ] conducted a survey of the membership of the Pediatric Orthopedic Society of North America, which incorporated the experience of 57 surgeons who treated 79 fractures in patients with osteopetrosis, with their findings illustrating that the majority of patients with osteopetrosis were successfully treated using the conservative approach.…”

“…There is a certain risk of drill bit breakage and iatrogenic fracture during the operation, which can lead to failure of treatment[ 9 - 12 ]. However, as long as preoperative preparations and corresponding surgical strategies are well formulated in a timely manner, surgical treatment is still heralded as the first-choice treatment for fractures in patients with osteopetrosis[ 7 , 18 , 19 ]. Unfortunately, regardless of whether the operation is successful or not, the risk of delayed union or even nonunion still persists[ 18 ].…”

“…Currently, there is no clear consensus on whether conservative or surgical treatments should be adopted for fractures in patients with osteopetrosis [ 7 ]. It is generally believed that non-operative treatment regimens should be selected for children, adolescents, and most of the patients presenting with upper limb fractures[ 8 ].…”

Successful total hip arthroplasty for autosomal dominant osteopetrosis complicated by hip osteoarthritis: A case report and review of the literature

“…Plate osteosynthesis, intramedullary nailing and total joint arthroplasty are all suitable options. Hasan et al (24) provided a summary of the difficulties in treating OP fractures, including broken/bent drill bits, infection, hard bone, bone overheating, periprosthetic fracture, slow healing of fracture and narrow medullary canal, and concluded that plate osteosynthesis may be preferred.…”

“…A sequence of treatments, progressing from drainage, antibiotic therapy, sequestrectomy, tooth extraction, saucerization, decortication, to bone resection and oxygen therapy, has been proven to be valuable in the management of osteomyelitis (26). For patients with benign OP, non-operative treatment options include hip spica plaster cast, traction, splint and avoidance of weight bearing (24). A low-calcium diet can create a calcium-absorptive state and calcitriol can stimulate bone resorption, which may delay the process of bone sclerosis (27).…”