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Muscular/Rheumatologic

Clinical snapshot

Children with hypophosphatasia (HPP) often have delayed or missed motor milestones.1-3

In a natural history study of patients ≤5 years of age with hypophosphatasia4,a:
89% (24/27) had developmental delays
  • 42% (10/24) had delayed walking

Mobility-related muscular and rheumatologic manifestations have lasting impacts on patients’ lives.1-3,5-7

Defective bone mineralization and impaired regulation of phosphate and calcium may lead to a range of muscular and rheumatologic consequences, including1-3,5,7-11

Muscle and joint pain
Muscle weakness
Joint stiffness and swelling
Delayed or missed motor milestones
Hypotonia
Calcium pyrophosphate dihydrate (CPPD) deposition, which may lead to chondrocalcinosis or pseudogout
Waddling gait

Along with skeletal deformities, muscular and rheumatologic consequences can leave patients with significant disabilities, limiting independence.1,5

aData 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.4

bData from a retrospective, multinational, noninterventional natural history study of childhood hypophosphatasia (N=32).8

cHIPS/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).6

dHOST was a telephone survey that queried demographics, hypophosphatasia-related illness history, disease progression, and health-related quality of life. Fifty-one patients participated.9

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References:
  1. Seshia SS, Derbyshire G, Haworth JC, Hoogstraten J. Myopathy with hypophosphatasia. Arch Dis Child. 1990;65(1):130-131.
  2. Balasubramaniam S, Bowling F, Carpenter K, et al. Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. J Inherit Metab Dis. 2010;33(3):25-33.
  3. 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.
  4. 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.
  5. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388.
  6. Data on file, Alexion Pharmaceuticals.
  7. Berkseth KE, Tebben PJ, Drake MT, Hefferan TE, Jewison DE, Wermers RA. Clinical spectrum of hypophosphatasia diagnosed in adults. Bone. 2013;54(1):21-27.
  8. 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.
  9. 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.
  10. Whyte MP. Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 2010;1192:190-200.
  11. Chuck AJ, Pattrick MG, Hamilton E, Wilson R, Doherty M. Crystal deposition in hypophosphatasia: a reappraisal. Ann Rheum Dis. 1989;48(7):571-576.
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