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Current treatment options

Medical treatment options for hypophosphatasia (HPP) are available.

Managing hypophosphatasia

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

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 misdiagnosis

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

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