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Current treatment options

Medical treatment options for hypophosphatasia (HPP) are available.

Managing hypophosphatasia

Patients with confirmed or suspected diagnoses of hypophosphatasia should be referred to an individualized management team, which may include:

Endocrinologists
Geneticists
Orthopedists
Radiologists
Dentists
Physical therapists

Historically, management of hypophosphatasia has focused on supportive therapy to minimize disease-related systemic manifestations1,2:

Vitamin B6 for seizures in affected patients1,2
Surgery to relieve intracranial pressure or repair fractures1,2
Pain management, such as NSAIDs2
Dental care to preserve primary dentition2

High-dose vitamin D, calcium supplements, and bisphosphonates should not be given when hypophosphatasia is suspected, as they have been shown to exacerbate symptoms of hypophosphatasia.2-4

Fractures and pseudofractures are common in patients with hypophosphatasia and can potentially be managed with surgical interventions.1,2

Due to the unique pathophysiology of the disease, surgical repair may differ for patients with hypophosphatasia. Experts recommend managing pseudofractures secondary to hypophosphatasia by internal fixation with a load-bearing device without removal1,5,6

Right femoral pseudofracture7

Reprinted with permission from Whyte, Principles of Bone Biology, 3rd ed, 2008.

A pseudofracture of the proximal femur (arrow) treated with intramedullary nail fixation8

Reprinted with permission from Berkseth et al., 2013.

Avoid misdiagnoses

Misdiagnosis can lead to ineffective management that can compound clinical consequences.1-4

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References: 1. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388. 2. 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. 3. 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. 4. 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. 5. 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. 6. Whyte MP. Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 2010;1192:190-200. 7. 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. 8. Berkseth KE, Tebben PJ, Drake MT, Hefferan TE, Jewison DE, Wermers RA. Clinical spectrum of hypophosphatasia diagnosed in adults. Bone. 2013 May;54(1):21-7.