Hypophosphatasia

Hypophosphatasia (HPP) is a rare genetic disorder characterized by a deficiency of the enzyme alkaline phosphatase (ALP), leading to impaired mineralization of bones and teeth. This condition results in skeletal abnormalities and can manifest across a spectrum of severity. Common features of HPP include rickets in infants, causing soft and bowed bones, and the premature loss of teeth. In severe cases, individuals may experience respiratory complications due to chest deformities. In milder forms, symptoms might be limited to dental issues or fractures later in life. HPP is caused by mutations in the ALPL gene, leading to reduced ALP activity. Diagnosis involves clinical evaluation, genetic testing, and biochemical assessments. Treatment approaches aim to manage symptoms and may include enzyme replacement therapy, supportive care, and addressing complications like fractures or dental problems. Due to its rarity and variable presentation, HPP requires a multidisciplinary approach involving geneticists, endocrinologists, orthopaedic specialists, and dentists for comprehensive management and support for affected individuals and their families.