RhAPPcast: Diagnostic Crossroads: Clues, Pitfalls, and the Journey to an HPP Diagnosis

In this episode of RhAPPcast, host Amanda Mixon is joined by rheumatology expert Wendy Simmons, PA-C, to explore the diagnostic challenges of hypophosphatasia (HPP), a rare genetic metabolic bone disease that often goes unrecognized in clinical practice. This conversation dives into the underlying biology of HPP, including low alkaline phosphatase levels and impaired bone mineralization, while highlighting why the condition is frequently misdiagnosed as osteoporosis, fibromyalgia, or other musculoskeletal disorders.

Listeners will gain practical insights into key red flags such as persistent low alkaline phosphatase, recurrent or atypical fractures, chronic bone and joint pain, enthesitis, dental abnormalities, and lifelong symptom patterns that may trace back to childhood. The discussion also emphasizes common diagnostic pitfalls, including overlooking low lab values, incomplete patient histories, and lack of awareness across specialties. This episode underscores the importance of a thorough clinical workup, interdisciplinary collaboration, and increased education to reduce diagnostic delays and improve patient outcomes. Ideal for rheumatology providers and advanced practice providers, this podcast delivers actionable strategies to enhance clinical reasoning and recognize HPP earlier in the diagnostic journey.

For more expert-led rheumatology education, visit the RhAPP Content Rheum and RhAPP ACE app, and subscribe to RhAPPcast for future episodes.