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Hypophosphatasia (HPP) is a progressive, life-threatening disease.1-3

Systemic manifestations can increase mortality risk in children with hypophosphatasia.1-4

Respiratory failure is the most common cause of death in infants with hypophosphatasia1,2
Vitamin B6–responsive seizures are a fatal prognostic indicator in infants with hypophosphatasia1,2,4
Whyte et al provide data on mortality in a natural history study of patients with severe perinatal- and infantile-onset hypophosphatasia (N=48).4,a

Adapted from Whyte et al, 2014. Kaplan-Meier plot of survival (time from birth to death). Overall survival was 27%. The probability of survival was 42% at 1 year (rate = 0.417, 95% CI [0.277, 0.550]), 31% at 2 years (rate = 0.313, 95% CI [0.189, 0.444]), 29% at 3 years (rate = 0.290, 95% CI [0.170, 0.421), and 27% at 4 years (rate = 0.268, 95% CI [0.152, 0.398]).4

Data from a noninterventional, retrospective chart review study designed to understand the natural history of 48 patients with severe perinatal- and infantile-onset hypophosphatasia ≤5 years of age.4

Patients with hypophosphatasia who survive into childhood and adolescence are at risk of devastating consequences.1

Avoid misdiagnoses

Early and accurate diagnosis is essential to avoiding preventable morbidities and premature mortality.5-7

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References: 1. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388. 2. Baumgartner-Sigl S, Haberlandt E, Mumm S, et al. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. Bone. 2007;40(6):1655-1661. 3. Eade AWT, Swannell AJ, Williamson N. Pyrophosphate arthropathy in hypophosphatasia. Ann Rheum Dis. 1981;40(2):164-170. 4. Whyte MP, Leung E, Wilcox W, et al. for Study 011-10 Investigators. Hypophosphatasia: a retrospective natural history study of the severe perinatal and infantile forms. Poster presented at: 2014 Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting; May 3-6, 2014; Vancouver, BC. 5. Mohn A, De Leonibus C, de Giorgis T, Mornet E, Chiarelli F. Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment. Acta Paediatr. 2011;100(7):e43-e46. 6. Sutton RAL, Mumm S, Coburn SP, Ericson KL, Whyte MP. “Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia. J Bone Miner Res. 2012;27(5):987-994. 7. Cundy T, Michigami T, Tachikawa K, Dray M, Collins J. Phenotypic change in a patient with hypophosphatasia with the onset of renal failure. Paper presented at: 40th Annual Congress of the European Calcified Tissue Society (ECTS); May 18-21, 2013; Lisbon, Portugal.