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  4. Systemic and functional consequences
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Skeletal

 
Clinical snapshot

Over time, systemic consequences can impact quality of life.1

86% (n=44) of pediatric patients reported pain.2,a
 
Pain impairs mobility, function, and activities of daily living.1-3
 

Skeletal manifestations can have devastating lifelong impacts for patients with hypophosphatasia (HPP).1,4-14

Patients with hypophosphatasia may experience4,6-15

Severe hypomineralization
Progressive skeletal demineralization
Hypophosphatasia-induced rickets
Bowing
Skeletal deformities
Bone pain
 
Osteomalacia
Frequent, nonhealing, nontraumatic, or recurrent fractures
Short stature
Multiple surgical interventions
 
 

Hypophosphatasia-induced rickets can have a lasting impact on mobility.4,7

Hypophosphatasia-induced rickets can lead to short stature, delayed walking, and waddling gait7,16,17
83% (5/6) of pediatric patients (5 to 15 years of age) had bowing of the long bones due to hypophosphatasia-induced rickets3,b
 

In patients with hypophosphatasia, the increasing number of recorded fractures over time suggests progressive morbidity as patients age.1,15,19

23% (7/30) of infants and young children experience fractures20,c
34% (11/32) of pediatric patients (5 to 15 years of age) experience fractures21,d
86% (108/125) of adult patients report fractures1,e
Adults with hypophosphatasia suffer from a large number of fractures (12.9 [mean] fractures [SD±19.0, range: 1-100])1,2,e

Devastating skeletal manifestations can progressively worsen across a lifetime in patients with hypophosphatasia.1,4,15,18

aThe HPP Impact Patient Survey (HIPS) was an Internet questionnaire that queried demographics, hypophosphatasia-related illness history, disease progression, and health-related quality of life. One hundred thirty-three patients participated.2

bData from a retrospective, noninterventional substudy of children (n=6) enrolled in a larger retrospective, multinational, noninterventional natural history study of childhood hypophosphatasia (N=32).3

cData from a noninterventional, retrospective chart review study designed to understand the natural history of 48 patients with severe perinatal- and infantile-onset hypophosphatasia ≤5 years of age.20

dData from a retrospective, multinational, noninterventional natural history study of childhood hypophosphatasia (N=32).21

eHIPS/HPP Outcomes Survey Telephone (HIPS/HOST) combined data from an Internet questionnaire and telephone survey that queried demographics, hypophosphatasia-related illness history, disease progression, and health-related quality of life. One hundred eighty-four patients participated (59 children, 125 adults).1,2

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References:
  1. 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.
  2. Data on file, Alexion Pharmaceuticals.
  3. Phillips D, Griffin D, Przybylski T, et al. Gait assessment in children with childhood hypophosphatasia: impairments in muscle strength and physical function. Poster presented at: Endocrine Society Annual Meeting; March 5-8, 2015; San Diego, CA.
  4. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388.
  5. Fraser D. Hypophosphatasia. Am J Med. 1957;22(5):730-746.
  6. Whyte MP, Greenberg CR, Salman N, et al. N Engl J Med. 2012;366(10):904-913.
  7. 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.
  8. 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.
  9. Kozlowski K, Sutcliffe J, Barylak A, et al. Hypophosphatasia. Review of 24 cases. Pediatr Radiol. 1976;5(2):103-117.
  10. Moulin P, Vaysse F, Bieth E, et al. Hypophosphatasia may lead to bone fragility: don’t miss it. Eur J Pediatr. 2009;168(7):783-788.
  11. Coe JD, Murphy WA, Whyte MP. Management of femoral fractures and pseudofractures in adult hypophosphatasia. J Bone Joint Surg Am. 1986;68(7):981-990.
  12. 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.
  13. 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.
  14. Taketani T, Onigata K, Kobayashi H, Mushimoto Y, Fukuda S, Yamaguchi S. Clinical and genetic aspects of hypophosphatasia in Japanese patients. Arch Dis Child. 2014;99(3):211-215.
  15. 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.
  16. 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.
  17. 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.
  18. 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.
  19. Simmons JH. Best practices in: recognizing and diagnosing hypophosphatasia. Clinical Endocrinology News website. http://www.mdedge.com/sites/default/files/issues/articles/Alexion_10_11_Final_Web.pdf. Published September 30, 2013. Accessed October 26, 2017.
  20. 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.
  21. Whyte MP, Madson KL, Munns CF, et al. A retrospective, multi-national, non-interventional, natural history study of the childhood form of hypophosphatasia [abstract LB-OR01]. Endocrine Society’s 97th Annual Meeting and Expo website. https://endo.confex.com/endo/2015endo/webprogram/Paper22822.html. Accessed October 26, 2017.