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Systemic and functional consequences of hypophosphatasia (HPP)

As a result of low alkaline phosphatase (ALP) activity and defective bone mineralization, patients may experience any number of these unpredictable and devastating symptoms throughout life.1-4

Dental

Premature tooth loss with the root intact before the age of 5 and nontraumatic tooth loss with the root intact at any age are hallmark symptoms of HPP.1,5-10

Fractures and skeletal deformity are skeletal symptoms of hypophosphatasia

Skeletal

Defective bone mineralization can lead to hypophosphatasia-induced rickets, skeletal deformities, and frequent fractures.11-15

Muscular / rheumatologic

Muscle weakness and pain, in combination with skeletal deformities, can lead to significant disability, limiting independence and activities of daily living.1,16

Rachitic chest and hypoplastic lungs are respiratory symptoms of hypophosphatasia

Respiratory

Bone demineralization can cause rachitic chest and respiratory insufficiency due to hypoplastic lungs, requiring mechanical ventilation.1,2,15

Craniosynostosis and vitamin B6–responsive seizures are neurologic symptoms of hypophosphatasia

Neurologic

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 B6–responsive seizures.1,4,17

Hypercalcemia and hypercalciuria are renal symptoms of hypophosphatasia

Renal

Hypercalcemia and hypercalciuria from defective bone mineralization can lead to nephrocalcinosis and progressive renal damage or failure.1,18,19

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References: 1. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 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. Weber TJ, Sawyer EK, Moseley S, Odrljin T, Kishnani PS. Burden of disease in adult patients with hypophosphatasia: results from patient-reported outcome surveys [abstract FRI-240]. Endocrine Society’s 97th Annual Meeting and Expo website. https://endo.confex.com/endo/2015endo/webprogram/Paper20871.html. Accessed July 13, 2015. 4. 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. 5. Whyte MP. Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 2010;1192:190-200. 6 van den Bos T, Handoko G, Niehof A, et al. Cementum and dentin in hypophosphatasia. J Dent Res. 2005;84(11):1021-1025. 7. Mornet E. Hypophosphatasia. Best Pract Res Clin Rheumatol. 2008;22(1):113-127. 8. 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. 9. 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. 10. 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 March 31, 2014. 11. 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. 12. Whyte MP, Greenberg CR, Salman N, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012;366(10):904-913. 13. 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. 14. 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. 15. Silver MM, Vilos GA. Pulmonary hypoplasia in neonatal hypophosphatasia. Pediatr Pathol. 1988;8(5):483-493. 16. Seshia SS, Derbyshire G, Haworth JC, Hoogstraten J. Myopathy with hypophosphatasia. Arch Dis Child. 1990;65(1):130-131. 17. Collmann H, Mornet E, Gattenlöhner S, Beck C, Girschick H. Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst. 2009;25(2):217-223. 18. 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. 19. Eade AWT, Swannell AJ, Williamson N. Pyrophosphate arthropathy in hypophosphatasia. Ann Rheum Dis. 1981;40(2):164-170.