Outcomes of Patients With Osteopetrosis Weight-bearing Bone Fractures

Osteopetrosis, also known as marble bone disease, is a rare genetic disorder that leads to the abnormal hardening and densification of bones due to defective osteoclast-mediated bone resorption. This imbalance results in bones that are abnormally dense yet fragile and prone to fractures. Osteopetrosis is typically categorized into three major types based on severity and inheritance patterns: autosomal recessive infantile osteopetrosis, autosomal recessive intermediate osteopetrosis, and autosomal dominant adult osteopetrosis.

In adult patients, osteopetrosis often presents with a range of clinical manifestations including bone pain, frequent fractures, cranial nerve compression, and hematological abnormalities due to bone marrow space reduction. Weight-bearing bones such as the femur, tibia, and pelvis are particularly susceptible to fractures due to the mechanical stress they endure. These fractures pose significant clinical challenges because the dense bone structure complicates surgical intervention and delays healing.

Open reduction and internal fixation (ORIF) is a common surgical technique used to treat fractures by realigning and stabilizing the broken bones with hardware such as plates, screws, or rods. In the context of osteopetrosis, ORIF can be particularly challenging due to the sclerotic nature of the bone, which makes drilling and hardware placement difficult, and the poor vascularity, which can impede healing and increase the risk of complications such as nonunion or infection.

Despite these challenges, ORIF remains a critical option for managing fractures in osteopetrosis patients. Understanding the clinical and radiological outcomes of this intervention can help optimize treatment protocols and improve patient care. This case series aims to evaluate the outcomes of ORIF in adult patients with osteopetrosis-induced weight-bearing bone fractures. By examining factors such as fracture healing, functional recovery, and complication rates, this study seeks to provide valuable insights into the effectiveness and potential risks associated with ORIF in this unique patient population.

Inclusion criteria

All patients with adult osteopetrosis above 18 years of age

Exclusion criteria

Non-weight-bearing fractures Non-osteopetrosis patients Pediatric patients Previous fracture surgery Concurrent bone conditions Inability to follow up Infection at fracture site Severe comorbidities Pregnancy Non-surgical treatment preference