Hypophosphatasia Treatments

There are no approved therapies for HPP today. Current management consists of palliating symptoms, maintaining calcium balance and applying physical, occupational, dental and orthopedic interventions as necessary.

Hypercalcemia in infants may require restriction of dietary calcium or administration of calciuretics. This should be done carefully so as not to increase the skeletal demineralization that results from the disease itself,

Vitamin D sterols and mineral supplements traditionally used for rickets or osteomalacia should not be used unless there is a deficiency, as blood levels of calcium ions (Ca2+), inorganic phosphate (Pi) and vitamin D metabolites usually are not reduced.

Craniosynostosis, the premature closure of skull sutures, may cause intracranial hypertension and may require neurosurgical intervention to avoid brain damage in infants

Bony deformities and fractures are complicated by the lack of mineralization and impaired skeletal growth in these patients. Fractures and corrective osteotomies (bone cutting) can heal, but healing may be delayed and require prolonged casting or stabilization with orthopedic hardware. A load-sharing intramedullary nail on rod has been shown to be the best surgical treatment for complete fractures, symptomatic pseudofractures, and progressive asymptomatic pseudofractures in adult HPP patients

Dental problems: Children particularly benefit from skilled dental care, as early tooth loss can cause malnutrition and inhibit speech development. Dentures may ultimately be needed. Dentists should carefully monitor patients’ dental hygiene and use prophylactic programs to avoid deteriorating health and periodontal disease

Physical Impairments and Pain: Rickets and bone weakness associated with HPP can restrict or eliminate ambulation, impair functional endurance, and diminish ability to perform activities of daily living. Nonsteroidal anti-inflammatory drugs may improve pain-associated physical impairment and can help improve walking distance

Investigational use of more directed treatments has been limited.

Bisphosphonate (pyrophosphate synthetic analog) in one infant had no discernible effect on the skeleton, and the infant’s disease progressed until death at 14 months of age

Bone marrow cell transplantation in two severely-affected infants produced radiographic and clinical improvement, although the mechanism of efficacy is not fully understood and significant morbidity persisted

Enzyme replacement therapy with normal or ALP-rich serum from patients with Paget’s bone disease was not beneficial

Phase 2 clinical trials of bone targeted enzyme replacement therapy have been completed for the treatment of hypophosphatasia in infants and juveniles, a phase 2 study in adults is ongoing.

Further Reading

This article is licensed under the Creative Commons Attribution-ShareAlike License. It uses material from the Wikipedia article on "Hypophosphatasia" All material adapted used from Wikipedia is available under the terms of the Creative Commons Attribution-ShareAlike License. Wikipedia® itself is a registered trademark of the Wikimedia Foundation, Inc.

Last Updated: Feb 1, 2011

Read in | English | Español | Français | Deutsch | Português | Italiano | 日本語 | 한국어 | 简体中文 | 繁體中文 | العربية | Dansk | Nederlands | Finnish | Ελληνικά | עִבְרִית | हिन्दी | Bahasa | Norsk | Русский | Svenska | Magyar | Polski | Română | Türkçe
The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News-Medical.Net.
Post a new comment