Hypophosphatasia is a rare metabolic bone disease. Hypophosphatasia may sometimes be fatal in certain patients. It is an inherited disease that affects the development bones and teeth. Symptoms of Hypophosphatasia are:
• Weak bones and teeth
• Impaired bone and teeth development like Rickets
• Short limbs
• Abnormally shaped chest and skull bones
• Poor feeding
HOW IS HYPOPHOSPHATASIA DIAGNOSED?
In children the loss of primary or baby teeth with the root intact at an early stage can be diagnosed as hypophosphatasia. In a blood test the low level of alkaline phosphatase enzyme in the serum is an indicator of this disorder. X-rays are vital and crucial in diagnosing this disease as they show bone defects clearly.
HOW IS HYPOPHOSPHATASIA TREATED?
The treatment of hypophosphatasia is directed toward the specific symptoms and complications that may differ from individual to individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, orthopedic surgeons, dental specialists (e.g. pediatric dentist), pain management specialist, and other healthcare professionals may need to systematically and comprehensively plan treatment. Genetic counseling may be of benefit for affected individuals and their families. With children with hypophosphatasia, psychosocial support for the entire family is essential as well.
DID YOU KNOW?
The mildest form of this condition, called odontohypophosphatasia, only affects the teeth. People with this disorder typically experience abnormal tooth development and premature tooth loss, but do not have the skeletal abnormalities seen in other forms of hypophosphatasia.