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HPP: a life-threatening metabolic disorder1,3

HPP ruins lives with high mortality rates in infants and systemic sequelae that can increase the risk of death in juvenile and adult patients.1,4-8



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HPP ruins bones and bodies1,2

Low ALP is the underlying cause of morbidities and mortality associated with HPP.1,2,9


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How to accurately identify HPP

Misdiagnosis can lead to inappropriate—and sometimes harmful—treatment that can compound clinical consequences, so it's important to know what the common misdiagnoses for HPP are and how to easily confirm your suspicion of the disease.1,6,10,11

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References: 1. Rockman-Greenberg C. Hypophosphatasia. Ped Endocrinol Rev. 2013;10(2):380-388. 2. Whyte MP. Hypophosphatasia: nature's window on alkaline phosphatase function in humans. In: Bilezikian JP, Raisz LG, Martin TJ, eds. Principles of Bone Biology. Vol 1. 3rd ed. San Diego, CA: Academic Press; 2008:1573-1598. 3. Fraser D. Hypophosphatasia. Am J Med. 1957;22(5):730-746. 4. Eade AWT, Swannell AJ, Williamson N. Pyrophosphate arthropathy in hypophosphatasia. Ann Rheum Dis. 1981;40(2):164-170. 5. Chodirker BN, Evans JA, Seargeant LE, Cheang MS, Greenberg CR. Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening. Am J Hum Genet. 1990;46(2):280-285. 6. 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. 7. Bliuc D, Nguyen ND, Milch VE, Nguyen TV, Eisman JA, Center JR. Mortality risk associated with low-trauma osteoporotic fracture and subsequent fracture in men and women. JAMA. 2009;301(5):513-521. 8. Whyte M, Greenberg CR, Kishnani P, et al. Fracture burden in children and adults with hypophosphatasia. Poster presented at: 39th Annual Congress of the European Calcified Tissue Society (ECTS); May 19-23, 2012; Stockholm, Sweden. 9. Whyte MP. Hypophosphatasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 4. 8th ed. New York, NY: McGraw-Hill; 2001:5313-5329. 10. 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. 11. Mornet E, Nunes ME. Hypophosphatasia. In: Pagon RA, Bird TD, Dolan CR, Stephen K, eds. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993. http://www.ncbi.nlm.nih.gov/books/NBK1150/. Published November 20, 2007. Updated August 5, 2010. Accessed July 11, 2011.