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

In this episode of RhAPPcast, host Amanda Mixon PA-C, is joined by Wendy Simmons, PA-C, they explore the diagnostic challenges of hypophosphatasia (HPP), a rare genetic metabolic bone disease that is frequently overlooked or misdiagnosed. Mixon and Simmons discuss key clinical red flags, including persistently low alkaline phosphatase, fracture patterns, dental history, and musculoskeletal pain that can mimic more common conditions such as osteoporosis or fibromyalgia. The conversation highlights the underlying biology of HPP, common diagnostic pitfalls, and the real-world burden of delayed diagnosis across the lifespan. This episode is designed to sharpen clinical reasoning, improve awareness of hypophosphatasia in rheumatology practice, and support earlier, more accurate diagnosis to improve patient outcomes.