Treating Hypophosphatasia

Living with HPP

Due to the lack of approved treatments for HPP, management focuses on supportive therapy to minimize disease-associated symptoms, and family support is important.

Care for infants may include respiratory support, treatment of hypercalcemia/hypercalciuria, treatment of seizures with vitamin B6, and surgical treatment of A condition in which some or all of the cranial sutures in a child close too early, which affects brain and skull growth.craniosynostosis.

All patients living with HPP should seek routine dental care starting at one year of age and may benefit from non-steroidal anti-inflammatory drugs (NSAIDS) for osteoarthritis and bone pain, and bone rods for pseudofractures and stress fractures. Patients with infantile HPP should be monitored for increased intracranial pressure caused by craniosynostosis. Patients should also avoid A class of drugs used to treat osteoporosis and similar diseases that prevent the loss of bone mass by inhibiting the digestion of bones by osteoclasts.bisphosphonates and excess vitamin D.

Learn more about managing HPP.

Orthopedic Care

All HPP patients with bone symptoms may benefit from consulting an orthopedist (a doctor who specializes in the musculoskeletal system).

Orthopedic surgical involvement may be necessary. Bone deformities and fractures are complicated by the lack of mineralization and impaired skeletal growth in patients. Fractures and corrective osteotomies (bone cutting) can heal, but healing may be delayed and require prolonged casting or stabilization with orthopedic hardware. A condition in which some or all of the cranial sutures in a child close too early, which affects brain and skull growth.Craniosynostosis, the premature closure of skull sutures, may cause intracranial hypertension and may require neurosurgical intervention to avoid brain damage in infants.15

Orthopedic hardware may be required for severe fractures

Dental Care

All patients should consult with a dental specialist starting at one year of age. 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.¹⁶

Diet and Supplements

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 itself.¹⁷ 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 hypercalcemia in HPP patients.¹⁸ Vitamin D sterols and mineral supplements traditionally used for 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.¹⁹

Physical Activity

Rickets and bone weakness associated with HPP can restrict or eliminate ambulation, impair functional endurance, and diminish ability to perform activities of daily living.^{20, 21} Nonsteroidal anti-inflammatory drugs may improve pain-associated physical impairment²² and can help improve walking distance.²³

Investigational Treatment

The investigational use of more definitive HPP treatments has been limited. A subcutaneous A molecule that catalyzes or triggers biochemical reactions.enzyme replacement therapy has demonstrated potential in Research done prior to a clinical study.preclinical studies and 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 trials.²⁴