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Progressive Case 1

Worsening pain and muscle weakness in a female adult with hypophosphatasia1

A young woman experiences progressive worsening of symptoms of hypophosphatasia that impair physical function.

Disabling manifestations of hypophosphatasia can present at any age, and symptoms can progressively worsen into adulthood.2-5

Based on a published case study: Silva et al, Acta Rheumatol Port, 2012.

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  1. Silva I, Castelão W, Mateus M, Branco JC. Childhood hypophosphatasia with myopathy: clinical report with recent update. Acta Rheumatol Port. 2012;37(1):92-96.
  2. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388.
  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. Poster presented at: Endocrine Society Annual Meeting; March 5-8, 2015; San Diego, CA.
  4. Caswell AM, Whyte MP, Russell RGG. Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: clinical and laboratory aspects. Crit Rev Clin Lab Sci. 1991;28(3):175-232.
  5. Birtwell WM Jr, Riggs BL, Peterson LFA, Jones JD. Hypophosphatasia in an adult. Arch Intern Med. 1967;120(1):90-93.