MENA 2024 Recordings-Hypophosphatemia and Hypophosphatasia

Video Transcription

Video Summary

The speaker, an expert affiliated with multiple endocrinology associations and NASA, discusses rare bone diseases, focusing on hypophosphatasia and X-linked hypophosphatemia (XLH). These disorders disrupt mineralization, which can affect both bone density and soft tissues like arteries, posing significant health risks with age. Hypophosphatasia, marked by low alkaline phosphatase, can lead to varying symptoms ranging from infantile seizures to mild adult muscle and bone issues. Diagnosis hinges on consistent low alkaline phosphatase levels, often overlooked in clinical practice. The disorder can be managed with enzyme replacement therapies, especially crucial for severe pediatric cases. XLH, linked to elevated FGF23 and low phosphorus levels, demands careful diagnosis and management, as misdiagnosis can worsen the condition with inappropriate osteoporosis treatments. The speaker emphasizes routine phosphorus checks in metabolic evaluations to prevent misdiagnosis. Furthermore, mineralization processes are complex, affecting systemic health beyond bones, making awareness and accurate diagnosis of these rare conditions crucial for appropriate management and patient outcomes. The talk also touches on the potential implications of understanding mineralization disorders for common health issues like cardiovascular disease.

Asset Subtitle

Dr. Steven Petak

Keywords

hypophosphatasia

X-linked hypophosphatemia

bone diseases

mineralization

enzyme replacement therapy

FGF23

phosphorus levels

cardiovascular disease