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Life-threatening.

Progressive.

Systemic.

Inherited.1,2

Low alkaline phosphatase (ALP) is the biological hallmark of hypophosphatasia (HPP) 1,3,4

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Patients of all ages have a high burden of disease.1

How might patients in your practice be impacted by hypophosphatasia? Choose a patient type to learn more.

Neonates and Infants

Children and Adolescents

Adults

Follow the progressive course of HPP.

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Devastating consequences. Lifelong Impact.

As a result of low alkaline phosphatase activity and defective bone mineralization, patients may experience any number of these unpredictable and devastating symptoms throughout life.1,3,5,6

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  • Dental
  • Defective bone mineralization can lead to hypophosphatasia-induced rickets, skeletal deformities, and frequent <span class='nowrap'>fractures.<sup>1,3,13-17</sup></span> Skeletal
  • Muscle weakness and pain, in combination with skeletal deformities, can lead to significant disability, limiting independence and activities of daily living. <sup>1,18</sup> Muscular/Rheumatologic
  • Bone demineralization can cause rachitic chest and respiratory insufficiency due to hypoplastic lungs, requiring mechanical ventilation.<sup>1,3,17</sup> Respiratory
  • Craniosynostosis can lead to a range of neurologic consequences. Additionally, because pyridoxal 5'-phosphate (PLP) is not dephosphorylated, it cannot pass through the blood-brain barrier, leading to vitamin B<sub>6</sub>–responsive seizures.<sup>1,6,19</sup> Neurologic
  • Hypercalcemia and hypercalciuria from defective bone mineralization can lead to nephrocalcinosis and progressive renal damage or failure.<sup>1,20,21</sup> Renal

Accurately diagnose hypophosphatasia

Alkaline phosphatase test

Low alkaline phosphatase activity can be detected with a routine laboratory test1,12,22

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Accurately Diagnose Hypophosphatasia

Misdiagnosis occurs often because the clinical presentation of hypophosphatasia can overlap with those of other metabolic disorders1,12,20,23

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Hypophosphatasia diagnosis in family members

Family members of patients may have undiagnosed hypophosphatasia11,12

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How do you
identify hypophosphatasia
in your practice?

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Low alkaline phosphatase is the biological hallmark of hypophosphatasia.1,4

Growth and development profoundly affect the normal interval for alkaline phosphatase.25,26
Assess your patient’s alkaline phosphatase
Patient and family experiences with hypophosphatasia

"The biggest struggle for me is the energy and keeping my pain at a place where I can still function."

"I first learned of hypophosphatasia when Abigail was diagnosed at 7 months old."

"I was born with it, struggled a lot through birth and my teen years."

"He gave me a blood test, and sure enough, my alkaline phosphatase was very low."

"We kept telling them . . . it’s not a nutrition issue, it’s something else."

"She looks like everything’s fine, when underneath there’s so many issues…"

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References:
  1. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388.
  2. 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.
  3. 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 2. 3rd ed. San Diego, CA: Academic Press; 2008:1573-1598.
  4. 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.
  5. Weber TJ, Sawyer EK, Moseley S, Odrljin T, Kishnani PS. Burden of disease in adult patients with hypophosphatasia: results from patient-reported outcome surveys. Poster presented at: Endocrine Society Annual Meeting; March 5-8, 2015; San Diego, CA.
  6. 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.
  7. Whyte MP. Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 2010;1192:190-200.
  8. van den Bos T, Handoko G, Niehof A, et al. Cementum and dentin in hypophosphatasia. J Dent Res. 2005;84(11):1021-1025.
  9. Mornet E. Hypophosphatasia. Best Pract Res Clin Rheumatol. 2008;22(1):113-127.
  10. Reibel A, Maniére M-C, Clauss F, et al. Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. Orphanet J Rare Dis. 2009;4:6.
  11. Whyte MP, Murphy WA, Fallon MD. Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. Am J Med. 1982;72(4):631-641.
  12. Mornet E, Nunes ME. Hypophosphatasia. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993. http://www.ncbi.nlm.nih.gov/books/NBK1150/. Published November 20, 2007. Updated February 4, 2016. Accessed October 26, 2017.
  13. Beck C, Morbach H, Wirth C, Beer M, Girschick HJ. Whole-body MRI in the childhood form of hypophosphatasia. Rheumatol Int. 2011;31(10):1315-1320.
  14. Whyte MP, Greenberg CR, Salman N, et al. N Engl J Med. 2012;366(10):904-913.
  15. Gagnon C, Sims NA, Mumm S, et al. Lack of sustained response to teriparatide in a patient with adult hypophosphatasia. J Clin Endocrinol Metab. 2010;95(3):1007-1012.
  16. Schalin-Jäntti C, Mornet E, Lamminen A, Välimäki MJ. Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia. J Clin Endocrinol Metab. 2010;95(12):5174-5179.
  17. Silver MM, Vilos GA, Milne KJ. Pulmonary hypoplasia in neonatal hypophosphatasia. Pediatr Pathol. 1988;8(5):483-493.
  18. Seshia SS, Derbyshire G, Haworth JC, Hoogstraten J. Myopathy with hypophosphatasia. Arch Dis Child. 1990;65(1):130-131.
  19. Collmann H, Mornet E, Gattenlöhner S, Beck C, Girschick H. Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst. 2009;25(2):217-223.
  20. 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.
  21. Eade AWT, Swannell AJ, Williamson N. Pyrophosphate arthropathy in hypophosphatasia. Ann Rheum Dis. 1981;40(2):164-170.
  22. Lab Tests Online. ALP. Washington DC: American Association for Clinical Chemistry; 2001. https://labtestsonline.org/understanding/analytes/alp/tab/test/. Updated March 22, 2017. Accessed October 26, 2017.
  23. 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.
  24. Whyte MP. Hypophosphatasia. In: Thakker RV, Whyte MP, Eisman JA, Igarashi T, eds. Genetics of Bone Biology and Skeletal Disease. London, UK: Academic Press; 2013:337-360.
  25. Colantonio DA, Kyriakopoulou L, Chan MK, et al. Closing the gaps in pediatric laboratory reference intervals: a CALIPER database of 40 biochemical markers in a healthy and multiethnic population of children. Clin Chem. 2012;58(5):854-868.
  26. Turan S, Topcu B, Gökçe I, et al. Serum alkaline phosphatase levels in healthy children and evaluation of alkaline phosphatase z-scores in different types of rickets. J Clin Res Pediatr Endocrinol. 2011;3(1):7-11.
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