Couverture de RhAPPcast: Identification and Diagnosis of XLH: A Story of Family History

RhAPPcast: Identification and Diagnosis of XLH: A Story of Family History

RhAPPcast: Identification and Diagnosis of XLH: A Story of Family History

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In this episode of RhAPPcast, the official podcast of Rheumatology Advanced Practice Providers, host Amanda Mixon and Bonnie Smeryage, NP, explore the real-world impact of X-linked hypophosphatemia (XLH) through a powerful patient perspective. Featuring Shannon Sharp, a patient ambassador with Kyowa Kirin, this discussion dives into the genetic basis, diagnostic challenges, and lifelong burden of XLH—a rare, chronic metabolic bone disorder characterized by renal phosphate wasting. Learn how XLH symptoms such as bone pain, muscle weakness, fractures, and joint stiffness can mimic common rheumatologic conditions, often leading to misdiagnosis. This episode highlights the critical role of family history, genetic testing, and fasting serum phosphorus in identifying XLH, while also emphasizing the importance of compassionate, patient-centered care when discussing sensitive topics like family planning. Gain valuable clinical insights into disease progression, surgical considerations, and quality-of-life challenges, along with practical strategies to improve diagnosis and management. Whether you're a rheumatology provider, advanced practice provider (APP), or healthcare professional, this episode offers essential education on recognizing and supporting patients with XLH.

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