Hypophosphatasia (HPP) disrupts the body’s ecosystem through a deficiency in a key enzyme: alkaline phosphatase (ALP).1

 

ALP deficiency, or low ALP, is most recognised for impacting the skeletal system, but we can rethink HPP by understanding that it has systemic, wide-reaching effects on muscles, the nervous system, mood, pain perception, and more.2  

 

In this short, animated video, explore: 

  • The crucial role of ALP in bone mineralisation, muscle function, and neurotransmitter synthesis 3,4,5,6,7 
  • Clinical features of HPP, which can include pain, fatigue, poorly healing fractures, muscle weakness, headache, mood disorders, and sleep disturbance 
  • Two common patient phenotypes of HPP: Pain and Bone 
  • Why it’s time to rethink HPP by earlier recognition of HPP signs and symptoms, and impact of persistently low ALP levels 5,8,9

 

1.Khan AA, Josse R, Kannu P, et al. Osteoporos Int. 2019;30:1713-1722. 2.Khan AA, Brandi ML, Rush ET, et al. Osteoporos Int. 2023;35:431-438. 3.Sharma U, Pal D, Prasad R. Ind J Clin Biochem. 2014;29:269-278:1-8. 4.Khan AA et al. Osteoporosis Int 2024;35:431–8. 5.Rockman-Greenberg C. Pediatr Endocrinol Rev 2013;10(suppl 2):S380–8. 6.Linglart A, Biosse-Duplan M. Curr Osteoporos Rep 2016;14:95–105. 7.Reis FS, Lazaretti-Castro M. Arch Endocrinol Metab 2023;25;67(5):e000626. 8.Whyte MP. Ann N Y Acad Sci. 2010;1192:190-200. 9.Tournis S, et al. J Clin Med. 2021;10(23):5676

 

 

Now view 5 fact cards here to reveal key statistics and clinical insights on the diagnosis and disease burden of hypophosphatasia (HPP) in children and adults. Will they make you rethink HPP diagnosis and disease burden?

  1. Chandel NS. Cold Spring Harb Perspect Biol. 2021;13:1-11

  2. Sharma U, Pal D, Prasad R. Ind J Clin Biochem. 2014;29:269-278:1-8

  3. Shaban SM, Byeok Jo S, Hafez E, Cho JH, Kim DH. Coord Chem Rev. 2022;465

  4. Alli RA, Slivinski N. What is Hypophosphatasia? Published May 20, 2023. Accessed April 28, 2025. https://www.webmd.com/children/what-is-hypophosphatasia

  5. Khan AA, Brandi ML, Rush ET, et al. Osteoporos Int. 2023;35:431-438

  6. Khan AA, Josse R, Kannu P, et al. Osteoporos Int. 2019;30:1713-1722

  7. Rockman-Greenberg C. Pediatr Endocrinol Rev. 2013;10 Suppl2:380-388

  8. Whyte MP. Ann NY Acad Sci. 2010;1192:190-200

  9. Reis FS, Lazaretti-Castro M. Arch Endocrinol Metab. 2023;67:1-9

  10. Sanabria-de la Torre R, Martinez-Heredia L, Gonzalez-Salvatierra S, et al. Front Endocrinol. 2022;13:1-12

  11. Salles JP. Clin Biochem Rev. 2020;41:13-27

  12. Shajani-Yi Z, Ayala-Lopex N, Black M, Dahir KM. Bone. 2022;163:1-10

  13. Gibellini F, Smith TK. IUBMB Life. 2010;62:414-428

  14. Tournis S, Yavropoulou MP, Polyzos SA, Doulgeraki A. J Clin Med. 2021;10:1-22

  15. Pierpont EI, Simmons JH, Spurlock KJ, Shanley R, Sarafoglou KM. Orphanet J Rare Dis. 2021;16:1-10

  16. Kishnani PS, Martos-Moreno GA, Linglart A, et al. Orphant J Rare Dis. 2024;19:1-11

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This programme has been initiated and funded by Alexion Pharmaceuticals and is intended for healthcare professionals only. 

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The Alexion logo is a registered trademark of Alexion Pharmaceuticals, Inc.©2024 Alexion Pharmaceuticals, Inc. All rights reserved.GL/UNB-H/0063 – May 2025

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This programme has been initiated and funded by Alexion Pharmaceuticals and is intended for healthcare professionals only. 

Alexion

The Alexion logo is a registered trademark of Alexion Pharmaceuticals, Inc.©2024 Alexion Pharmaceuticals, Inc. All rights reserved.GL/UNB-H/0063 – May 2025

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