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Surgical management for tibial shaft fractures using flexible nailing in adult hypophosphatasia

摘要


Introduction: Adult hypophosphatasia (HPP) is a rare inheritable metabolic disease affecting primarily the skeletal system resulting in decreased mineralization of bone. Hypophosphatasia has a variable inheritance pattern with the more severe form inherited as autosomal recessive. The diagnosis is based on decreased serum alkaline phosphatase (ALP) and an increased urinary phosphorylethanolamine (PEA). Patients with HPP suffer from multiple fractures, have limited mobility, rely on the use of assistive devices, and have a diminished quality of life. Case Report: A 47-year-old female was presented with a pathologic tibial shaft fracture that was treated with a flexible nail. Conclusion: Currently, there are no definitive treatment guidelines for fracture care in adults with HPP. Load sharing devices have been recommended due to their load-sharing properties and the osteoporotic bone quality in affected patients.

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