Hypophosphatasia (HPP) is a rare genetic bone disorder that is often overlooked in adults, leading to years of misdiagnosis and ineffective treatment. In this episode of RhAPPcast, host Amanda Mixon, PA-C is joined by nurse practitioner Jeremy Morgan to explore how HPP presents in adulthood and why it is frequently missed in rheumatology practice.

The discussion reviews common musculoskeletal features such as chronic bone pain, enthesitis, stress fractures, and functional limitations, along with conditions HPP is often mistaken for, including osteoporosis, fibromyalgia, and seronegative rheumatoid arthritis. Special attention is given to persistently low alkaline phosphatase (ALP) levels and why they should prompt further evaluation rather than being dismissed.

This episode provides practical guidance on recognizing red flags, using additional laboratory testing such as fasting phosphorus and vitamin B6, and supporting patients through a long and often frustrating diagnostic journey. Learn more rheumatology education on the RhAPP Content Rheum or through the RhAPP ACE app.