Hypophosphatasia Treatment is a rare genetic disease characterized by defective bone mineralization. Caused by mutations in the gene ALPL, it results in low levels of the enzyme alkaline phosphatase. This prevents normal mineralization of bones and teeth. The disease has a wide range in symptoms and severity depending on when symptoms first appear. Treatment options aim to replace the missing enzyme and manage complications.
Causes and Symptoms
Hypophosphatasia is inherited in an autosomal recessive pattern. This means two copies of the mutated ALPL gene, one from each parent, are required to cause the condition. The gene provides instructions for making the tissue non-specific isoenzyme of alkaline phosphatase (TNSALP). Mutations lead to reduced or absent TNSALP activity and inadequate mineralization of bone and teeth.
Symptoms can occur at various stages of life. The most severe forms present in infants as lethal or benign bone disease. Babies may have breathing problems from underdeveloped chests or suffer fractures from soft, deforming bones. Adult forms are milder and usually cause premature loss of teeth or bone pain.
Diagnosis and Tests
Doctors use a combination of clinical features, family history, biochemical tests, and genetic testing for diagnosis. Low alkaline phosphatase levels in blood and urine are indicative. Radiographs can reveal characteristic signs like fractures, abnormal bone shape, and poor mineralization. Definitive diagnosis is made through identification of ALPL mutations via genetic testing.
Enzyme Replacement Therapy
The first FDA-approved Hypophosphatasia Treatment for perinatal, infantile, and childhood-onset hypophosphatasia is asfotase alfa, marketed under the brand name Strensiq. It is a form of enzyme replacement therapy administered via subcutaneous injection. Asfotase alfa replaces the missing TNSALP enzyme and facilitates mineralization of bones and teeth.
In clinical trials, asfotase alfa significantly improved survival rates and reduced the need for ventilator support in severely affected infants. It also led to better growth, mobility, and skeletal healing. Treatment should continue throughout life to manage symptoms and maintain skeletal health. Side effects may include injection site reactions, skeletal pain, and hypercalcemia.
Bisphosphonate Therapy
For patients not eligible for or unable to access enzyme replacement therapy, bisphosphonates represent an alternative treatment approach. These are medications that inhibit bone resorption. Pamidronate (Aredia) has shown benefits in reducing skeletal complications and pain in adults with milder forms of hypophosphatasia. However, it does not directly address the underlying enzymatic defect. Side effects include fever and temporary bone pain following infusions. Bisphosphonates are not recommended for children.
Dietary Supplements
Dietary supplements like calcium and vitamin D are commonly used as an adjunct to other treatments. Maintaining adequate levels through supplementation is important for proper bone mineralization and growth, especially in children. However, supplements alone cannot replace the missing alkaline phosphatase enzyme or correct the genetic defect in hypophosphatasia. They play a supportive role when used along with enzyme replacement therapy, bisphosphonates, or other medications.
Bone and Tooth Care
Good oral hygiene with fluoridated toothpaste is advised to prevent premature tooth loss associated with poor dental formation in hypophosphatasia. Dental fillings, extractions, or braces may be needed to manage dental complications. Physiotherapy helps maintain joint mobility and muscle strength. Temporary bracing or casts can provide skeletal support following fractures until healing occurs. Regular checkups are needed to monitor bone mineral density and detect problems early. Surgical options may be explored for severe skeletal deformities.
Prognosis and Outlook
With current Hypophosphatasia Treatment approaches, the prognosis and quality of life for hypophosphatasia patients has improved significantly compared to past decades. Enzyme replacement therapy has reduced mortality rates in infants to near normal levels. Adults can expect to lead active lives with appropriate symptom management. However, treatment may need to continue indefinitely as symptoms may recur if therapy is stopped. Ongoing supportive care and monitoring of bone health remains important throughout life. Future research focuses on developing more effective and convenient formulations along with understanding disease mechanisms better.
In summary, hypophosphatasia is a rare genetic disease affecting bone and tooth mineralization due to low alkaline phosphatase levels. Symptoms range from severe skeletal complications in babies to milder forms in adults. Definitive diagnosis relies on clinical evaluation along with biochemical and genetic testing. Although currently incurable, available therapies like enzyme replacement and bisphosphonates can successfully manage the condition and improve quality of life when administered appropriately over the long term under medical guidance.
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1. Source: Coherent Market Insights, Public sources, Desk research
2. We have leveraged AI tools to mine information and compile it
About Author – Alice Mutum
Alice Mutum is a seasoned senior content editor at Coherent Market Insights, leveraging extensive expertise gained from her previous role as a content writer. With seven years in content development, Alice masterfully employs SEO best practices and cutting-edge digital marketing strategies to craft high-ranking, impactful content. As an editor, she meticulously ensures flawless grammar and punctuation, precise data accuracy, and perfect alignment with audience needs in every research report. Alice’s dedication to excellence and her strategic approach to content make her an invaluable asset in the world of market insights. LinkedIn