Multidisciplinary Management of Infantile Hypophosphatasia Resulting in Radiographic and Clinical Improvement: A Case Report

Hypophosphatasia (HPP) is a rare genetic condition that can manifest from the prenatal period to adulthood. Clinical presentation is characterized by six major forms. HPP can be complex and debilitating. A two-year-old male with a past medical history of HPP presented to our emergency room with a non-displaced supracondylar fracture after minor trauma. Non-accidental trauma was considered in addition to inadequate medical control of his HPP. He was referred to our multidisciplinary clinic and asfotase alfa was increased to an appropriate dose. A multidisciplinary approach is the standard of care for the management of children with HPP, allowing for routine evaluation by tertiary specialists. This includes medication dosing surveillance with serum studies and imaging. Enzyme replacement therapy, appropriately dosed by considering weight and laboratory values, may reduce orthopedic complications. A multidisciplinary team's surveillance of patients with HPP ensures proper medication management, decreases the likelihood of bony injury and encourages continued patient follow-up.