How Hypophosphatasia is Treated in Adults

Available Therapies for Hypophosphatasia in Adults

Also known as Rathbun disease, hypophosphatasia (HPP) is an inherited metabolic bone disorder that affects the mineralisation of teeth and bones due to mutations in the ALPL (alkaline phosphatase, biomineralisation-associated) gene.  

 
The ALPL gene helps produce the enzyme tissue-nonspecific alkaline phosphatase (TNSALP), which is an essential enzyme for bone and dental development. The severity of HPP may vary from mild forms, which appear in adulthood, to life-threatening forms, which are diagnosed prior to or shortly after birth.  

 
Although it is a complex condition, various treatment strategies can help manage symptoms, enhance quality of life, and increase physical function. Keep reading to understand the treatment for hypophosphatasia in adults.  

What is the Treatment for Hypophosphatasia in Adults? 

 
Discussed below are the major treatment methods adopted by healthcare specialists in order to treat and manage hypophosphatasia in adults: 

1. Enzyme Replacement Therapy (ERT): The standard treatment of paediatric-onset HPP is asfotase alfa, a subcutaneous enzyme replacement therapy. Asfotase alfa facilitates bone mineralisation by hydrolyzing inorganic pyrophosphate, a natural inhibitor of hydroxyapatite formation, thereby allowing normal calcium–phosphate deposition in bone. 
   Its use in adult-onset HPP is off-label and should be guided by specialist evaluation. 
2. Physical and Occupational Therapy: Individualised physical therapy approaches enhance mobility, flexibility, and muscle strength. People benefit particularly from early treatment, which targets the correction of bone misalignments and provides pain relief.  
   Occupational therapy can significantly improve daily activities, and physical therapists can prescribe the use of mobility assistance devices, such as wheelchairs or walkers, to enhance mobility. 
3. Pain Relief and Anti-inflammatory Drugs: To relieve pain and swelling in the bones and joints related to HPP, NSAIDs (nonsteroidal anti-inflammatory drugs) like naproxen, aspirin, or ibuprofen may be recommended. However, their use is meticulously monitored due to some potential side effects. 
4. Use of Calcitonin: Calcitonin is not a standard treatment for hypophosphatasia. In rare cases, it may be used to manage hypercalcemia in severe perinatal forms of HPP. 
5. Dental Care: Individuals with HPP frequently face early tooth loss and require specialised dental care. For this, consistent dental visits can play a crucial role in a person's HPP treatment strategy. Dentists may provide specialised orthodontic care for those with HPP in order to alleviate tooth loss and help remaining teeth from becoming misaligned.  
6. Orthotic and Assistive Devices: To improve mobility and physical support, people can make use of orthotic braces and orthotic insoles, which are both ideal for adults. These are used to manage the gait abnormality and help avoid falls or the possibility of further injury. 
7. Surgical Interventions: In conditions of bone deformities or repeated fractures, surgical interventions may be required. Orthopaedic rodding, in which a metal rod is implanted into the bone, can help stabilise and reinforce the long bones, such as the femur or tibia. Surgical interventions in adults are typically limited to fracture stabilization and correction of deformities. Cranial surgeries are mainly relevant to pediatric cases with craniosynostosis. 
8. Multidisciplinary Team Management: Comprehensive treatment is usually a group effort involving paediatricians, orthopaedists, endocrinologists, neurosurgeons, nephrologists, and dentists. This combined effort helps ensure the multifaceted needs of HPP patients are properly met at every stage of life. 

 
Although hypophosphatasia is a complex, chronic condition, recent developments in enzyme therapy and supportive interventions can be beneficial in managing it properly. A tailored, multidisciplinary approach with an emphasis on symptom alleviation, functional support, and regular monitoring is key to enhancing the quality of life in patients with HPP. 

Reader Information: This article is intended for informational and educational purposes only and does not constitute medical advice, diagnosis, or treatment. Hypophosphatasia is a rare and complex genetic disorder, and its management may vary depending on disease severity, age of onset, and individual patient factors. Treatment decisions should always be made in consultation with qualified healthcare professionals.