Schwab Pierre-Emmanuel, Dessain Alicia, Milby Joshua
Missouri Orthopaedic Institute, Missouri University Health, Department of Orthopaedic Surgery, 1100 Virginia Avenue, Columbia, MO 65201, United States of America.
Missouri University Health, Department of Pathology, 1 Hospital Drive, Columbia, MO 65201, United States of America.
Trauma Case Rep. 2024 Jul 15;53:101077. doi: 10.1016/j.tcr.2024.101077. eCollection 2024 Oct.
Hypophosphatasia is a rare inherited metabolic disease leading to inhibition of bone and teeth mineralization that can be complicated by multiple insufficiency fractures. Treatment is currently limited to enzyme replacement therapy using bone-targeting recombinant human alkaline phosphatase, or asfotase alfa. Romosozumab is a monoclonal anti-sclerostin antibody originally indicated for the treatment of osteoporosis in postmenopausal women with high-risk of fracture. Recently its indication had been expanded to other metabolic bone disorders such as osteogenesis imperfecta. We report a unique case of a 67-yer-old female with hypophosphatasia complicated by multiple delayed-union and nonunion insufficiency fractures of the pelvis. After 12-month therapy with Romosozumab to address her osteoporosis, the patient healed her fractures and increased her bone mass density. Our case report shows interesting effects of Romozumab in an adult patient with hypophosphatasia. It not only helped increase bone density, but also help in the healing process of delayed-union and nonunion insufficiency fractures of the pelvis and prevented the occurrence of new fractures during the treatment period. To our knowledge, this is the first report describing the potential effect of Romosozumab on insufficiency fractures in patients with hypophosphatasia.
低磷酸酯酶症是一种罕见的遗传性代谢疾病，会导致骨骼和牙齿矿化受到抑制，并可能并发多处不全骨折。目前的治疗方法仅限于使用骨靶向重组人碱性磷酸酶或阿法骨化醇酶进行酶替代疗法。罗莫单抗是一种抗硬化蛋白单克隆抗体，最初用于治疗有高骨折风险的绝经后妇女的骨质疏松症。最近，其适应症已扩展到其他代谢性骨病，如成骨不全症。我们报告了一例独特的病例，一名67岁女性患有低磷酸酯酶症，并伴有骨盆多处延迟愈合和不愈合的不全骨折。在用罗莫单抗治疗其骨质疏松症12个月后，患者的骨折愈合，骨密度增加。我们的病例报告显示了罗莫单抗在一名患有低磷酸酯酶症的成年患者身上产生的有趣效果。它不仅有助于增加骨密度，还有助于骨盆延迟愈合和不愈合的不全骨折的愈合过程，并在治疗期间预防了新骨折的发生。据我们所知，这是第一份描述罗莫单抗对低磷酸酯酶症患者不全骨折潜在影响的报告。
