FAQ: How Can HPP Be Misdiagnosed in Rheumatology and What Are Common Diagnostic Pitfalls?

In this educational FAQ video, Wendy Simmons, PA-C from Carolina Arthritis Associates, shares expert insights on hypophosphatasia (HPP)—a rare genetic metabolic bone disorder that is frequently underrecognized in rheumatology practice. With over 25 years of experience in rheumatology and specialization in osteoporosis, she highlights how HPP is characterized by low alkaline phosphatase levels and impaired bone mineralization, leading to chronic pain, fractures, and reduced quality of life. This comprehensive discussion explores why patients with HPP are often misdiagnosed with more common conditions such as fibromyalgia, osteoarthritis, neuropathies, or even psoriatic arthritis, and emphasizes the importance of recognizing overlapping, cross-specialty symptoms. Wendy outlines key clinical pearls to help advanced practice providers and healthcare professionals improve early diagnosis, including the importance of obtaining a detailed childhood history, dental history (early tooth loss with intact roots), and careful interpretation of alkaline phosphatase lab values across adult and pediatric ranges. She also discusses hallmark fracture patterns such as metatarsal stress fractures and atypical femur fractures, as well as the significant diagnostic delay—often averaging over a decade—that many patients experience. This video serves as a practical guide for clinicians to better identify HPP, avoid common diagnostic pitfalls, and ultimately improve patient outcomes through earlier recognition and appropriate management. Perfect for rheumatology APPs, physician assistants, nurse practitioners, and clinicians interested in rare bone diseases, osteoporosis, and metabolic disorders, this video reinforces the importance of a thorough clinical history, targeted lab evaluation, and heightened awareness of hypophosphatasia in everyday practice. For more expert-driven APP education, visit the RhAPP Content Rheum or access resources through the RhAPP ACE app.