Journal Club: HPP Diagnosis—Current State of the Art & Proposed Criteria for Children and Adults

In this Journal Club episode, Holly Reid, APN, CPNP, MS reviews the 2023 Osteoporosis International article, Hypophosphatasia Diagnosis: Current State of the Art and Proposed Diagnostic Criteria for Children and Adults, which offers long-needed clarity around diagnosing hypophosphatasia (HPP). HPP is a rare inherited metabolic bone disease that is frequently misdiagnosed or significantly delayed in both pediatric and adult patients, often leading to inappropriate treatment and poor outcomes. This discussion breaks down why early recognition matters and how rheumatology providers can play a critical role in identifying patients—even when they are not the primary treating clinician.

The episode provides a practical overview of HPP pathophysiology, including the role of tissue-nonspecific alkaline phosphatase (TNSALP), the accumulation of key substrates such as inorganic pyrophosphate and pyridoxal-5-phosphate, and how these defects lead to impaired bone and tooth mineralization. We review the wide spectrum of clinical manifestations across children and adults, from rickets, growth failure, and premature tooth loss in pediatrics to osteomalacia, fractures, chondrocalcinosis, and chronic musculoskeletal pain in adults.

For more education on HPP visit the RhAPP Content Rheum or download the RhAPP ACE app.