A detailed medical history, including information about other blood relatives who may have this disorder, will help your child’s paediatrician make an initial diagnosis of hypophosphatasia. The paediatrician will particularly ask for characteristic signs and symptoms from you, especially regarding growth, movement and bone and joint-related observations that you may have made. A physical examination will also help the paediatrician identify specific signs and symptoms.
Because the symptoms often overlap with other diseases, detailed tests have to be conducted to conclusively diagnose hypophosphatasia. Some of these include:
Blood tests to check the level of calcium, phosphate and alkaline phosphatase in the blood
X-ray studies to show characteristic changes within the bones
At the Children’s Hospital Service Line at The Aga Khan University Hospital the only internationally accredited hospital of Pakistan, paediatricians are internationally trained in the unique diagnosis and treatment of genetic disorders in children, such as hypophosphatasia. You must make sure that you discuss your child’s symptoms, as well as any family history of this disease, or an observed bone deformity in your child in complete detail with the paediatrician to help reach an accurate diagnosis and start off a personalized treatment plan.