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HPP IS A LIFE-THREATENING, PROGRESSIVE, SYSTEMIC,
INHERITED METABOLIC DISORDER.1,2

HPP is a lifelong disorder caused by loss-of-function mutations in the ALPL gene, which encodes tissue-nonspecific alkaline phosphatase (TNSALP).1,3,4

ALPL mutations result in low alkaline phosphatase (ALP) activity, which causes the severe systemic manifestations of HPP1,3,5


Systemic manifestations can increase mortality risk in children with HPP.1,5

Respiratory failure is the most common cause of death in neonates and infants with HPP1,5

Vitamin B6–responsive seizures are a fatal prognostic indicator in neonates and infants with HPP1,2,5

Mortality in patients with untreated HPP, birth to 5 years of age2

Adapted from Whyte et al, 2014. Kaplan-Meier plot of survival (time from birth to death). Overall survival was 27%. The probability of survival (95% CI) was 42% (0.277, 0.550), 31% (0.189, 0.444), 29% (0.170, 0.421), and 27% (0.152, 0.398) at 1, 2, 3, and 4 years, respectively, after which it remained constant (therefore, figure has been truncated).2

Data from a noninterventional, retrospective chart review study designed to understand the natural history of 48 patients ≤5 years of age with severe perinatal- and infantile-onset HPP. Patients included in the study were those diagnosed with HPP based on at least one of the following: serum biomarker levels (below-normal alkaline phosphatase and above-normal pyridoxal 5’-phosphate [PLP] or phosphoethanolamine [PEA]), below-normal alkaline phosphatase and radiographic abnormalities, or genetic analysis of the ALPL gene. Additionally, onset of HPP must have occurred prior to 6 months of age based on signs that included at least one of the following: respiratory compromise, rachitic chest deformity, and/or vitamin B6–responsive seizures.2

Low ALP activity results in impaired bone mineralization, which can lead to premature death, progressive physical disability, and poor quality of life.1,3,5,6

1. Rockman-Greenberg C. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388. 2. Whyte MP, et al; for Study 011-10 Investigators. Poster presented at: 2014 Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting; May 3-6, 2014; Vancouver, BC. 3. Whyte MP. Principles of Bone Biology. Vol 2. 3rd ed. San Diego, CA: Academic Press; 2008:1573-1598. 4. Greenberg CR, et al. Genomics. 1993;17(1):215-217. 5. Baumgartner- Sigl S, et al. Bone. 2007;40(6):1655-1661. 6. Weber TJ, et al. Poster presented at: Endocrine Society Annual Meeting; March 5-8, 2015; San Diego, CA.

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DO YOU
SUSPECT HPP
IN ANY PATIENT?

Contact Alexion for any query

LOOK FOR LOW ALKALINE PHOSPHATASE, HAVE YOU SEEN IT?

LOW ALKALINE PHOSPHATASE ACTIVITY causes HYPOPHOSPHATASIA (HPP), a progressive, debilitating and potentially life-threatening rare disease that affects patients of all ages.1-3

1.Whyte MP. Ann N Y Acad Sci. 2010;1192:190-200. / 2.Mornet E, Nunes ME. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993. https://www.ncbi.nlm.nih.gov/books/N BK1150/. Published November 20, 2007. Updated August 5, 2010. Accessed July 11, 2011 / 3. Rockman-Greenberg C. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388.

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