There are no approved therapies for HPP. Management today consists of palliating symptoms, maintaining calcium balance and applying physical, occupational, dental and orthopedic interventions as necessary.
Due to the lack of approved treatments for HPP, patients with the disease seek symptomatic relief from multiple medical specialists depending on their symptoms (Whyte 2002):
- Hypercalcemia in infants may require restriction of dietary calcium or administration of calciuretics. However, this should be done carefully so as not to increase the skeletal demineralization that results from the disease itself37. Subcutaneous injections of salmon A hormone produced by the parafollicular cells of the thyroid that acts to reduce blood calcium (Ca2+).calcitonin also may help reduce An elevation of calcium in the blood.hypercalcemia in HPP patients38 . Vitamin D sterols and mineral supplements traditionally used for A softening of bones in children leading to fractures and deformity, which is predominantly caused by a vitamin D deficiency.rickets or The adult form of rickets, which is a softening of the bones caused by defective bone mineralization.osteomalacia should not be used unless there is a deficiency, as blood levels of calcium ions (Ca2+), inorganic phosphate (Pi) and vitamin D The intermediates and products of metabolism.metabolites usually are not reduced39.
- Craniosynostosis, the premature closure of skull sutures, may cause intracranial hypertension and may require neurosurgical intervention to avoid brain damage in infants40.
- 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 patients41.
- 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 disease42.
- Physical Impairments and Pain: A softening of bones in children leading to fractures and deformity, which is predominantly caused by a vitamin D deficiency.Rickets and bone weakness associated with HPP can restrict or eliminate ambulation, impair functional endurance, and diminish ability to perform activities of daily living43, 44. Nonsteroidal anti-inflammatory drugs may improve pain-associated physical impairment45 and can help improve walking distance46.
Investigational use of more holistic HPP 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 age47.
- 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 persisted48, 49.
- Enzyme replacement therapy with normal or ALP-rich serum from patients with Paget’s bone disease was not beneficial50, 51.
- Parathyroid hormone (PTH) 1-34 seemed to benefit one HPP adult52,but The most common type of malignant bone cancer.osteosarcoma in rats has precluded its use in children.
- ENB-0040, a subcutaneous A molecule that catalyzes or triggers biochemical reactions.enzyme replacement therapy with affinity for bone, is currently under investigation in A research study that uses consenting human subjects to test the safety and efficacy of new therapeutic interventions and diagnostic tests.clinical trials53.