Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations

BACKGROUND: Hypophosphatasia (HPP) is a rare, heterogeneous disease caused by low tissue-nonspecific alkaline phosphatase activity and associated with a range of signs and symptoms, including bone mineralization defects, respiratory problems, seizures, premature tooth loss, and fractures. Data from patients with HPP and their healthcare resource utilization are lacking. We evaluated healthcare utilization for 3 patients with differing severities of HPP. RESULTS: Patient 1 had perinatal HPP (received enzyme replacement therapy asfotase alfa under a compassionate use program), Patient 2 had infantile HPP, and Patient 3 had childhood HPP. Healthcare resources used in the National Health Service, England, were identified from coded activities in the hospital database and detailed medical records. These data showed that healthcare utilization was directly related to disease severity. Patient 1 had respiratory complications necessitating prolonged admission for ventilation from birth. Over 2.5 years, this patient was hospitalized 725 days, with visits from 16 specialists. Patient 2 had HPP-associated signs and symptoms starting in infancy, was treated for craniosynostosis, experienced multiple fractures, and required outpatient management for > 18 years. Patient 3 developed signs and symptoms of HPP in childhood and received outpatient and day case treatment for dental, orthopedic, and cardiovascular problems over 24 years. Healthcare utilization varied with severity and complexity of disease manifestations between these patients. CONCLUSIONS: With the recent approval of asfotase alfa for HPP, data from this analysis may help mobilize multidisciplinary healthcare resources for management of HPP by elucidating healthcare resource needs of patients who show a spectrum of clinical manifestations of HPP.