AACE Rare Endocrine Disease Series On Demand: Recognizing and Treating X-Linked Hypophosphatemia a Lifelong Progressive Disease-Webinar Recording

Video Transcription

Video Summary

In the webinar on X-linked hypophosphatemia (XLH), a rare genetic disorder, Drs. Mike Lewicki and Ranjot Gill, alongside missing team member Dr. Basma Abdulhadi, presented the challenges and approaches to diagnosing and treating this lifelong condition. XLH is characterized by genetic mutations leading to elevated fibroblast growth factor 23 (FGF23), causing renal phosphate wasting and hypophosphatemia, which affects skeletal and muscular systems.<br /><br />Attendees learned about the importance of early diagnosis through fasting phosphorus tests and genetic testing, as well as the challenges in distinguishing XLH from similar conditions like tumor-induced osteomalacia (TIO). Conventional therapy involves phosphate supplements and active vitamin D, but compliance is difficult due to the inconvenience and possible side effects.<br /><br />Dr. Lewicki highlighted burosumab, a monoclonal antibody treatment approved for XLH, as a more effective option, improving bone health and pain management. However, its adaptation in treatment plans depends upon individual patient conditions and available insurance.<br /><br />The session underscored the need for a multidisciplinary approach in managing XLH, involving endocrinologists, nephrologists, dentists, geneticists, and physical therapists amongst others. Attendees were encouraged to explore resources like the XLH Network and Rare Bone Disease Echo program for comprehensive care and updates in treatment guidelines.<br /><br />Overall, the webinar emphasized the complex nature of XLH, the importance of accurate diagnosis, and evolving treatment options directly impacting patient quality of life.

Keywords

X-linked hypophosphatemia

genetic disorder

fibroblast growth factor 23

renal phosphate wasting

burosumab

early diagnosis

multidisciplinary approach

phosphate supplements

genetic testing

Rare Bone Disease Echo