Faculty / Content approved by
Dr. Lothar Seefried, University Medical Center Wuerzburg, Germany
Speaker: Dr. Lothar Seefried (PD)
Duration: 30 minutes
Summary:
This presentation provides an introduction to Hypophosphatasia (HPP), a rare genetic disorder non only affecting bone and tooth mineralization but also causing a wide spectrum of extraskeletal manifestations. It will cover the underlying cause (mutations in the ALPL gene leading to deficient alkaline phosphatase activity), the range of symptoms (from rickets-like bone deformities, pseudofractures, dental issues, muscle weakness, to life-threatening complications in severe forms), and the variability across different age groups. The talk will also highlight diagnostic considerations (such as low serum alkaline phosphatase levels and genetic testing), outline current treatment options (including enzyme replacement therapy with asfotase alfa, supportive care, and multidisciplinary management), and discuss the future outlook. Whether you are a newly diagnosed patient, a caregiver, or a healthcare provider with an HPP patient, this presentation offers the essential knowledge needed to understand the condition, navigate care options, and look ahead with confidence
Key Take Aways:
This webinar will provide valuable insights into:
- the cause of HPP
- the most common symptoms covering HPP in children as well as adult age
- clinical treatment options
- long term outlook