Journal Club Review: The Challenge of Hypophosphatasia Diagnosis in Adults

In this Journal Club Review, Eileen Lydon, NP, a rheumatology provider at NYU Hospital, discusses the challenges of diagnosing hypophosphatasia (HPP) in adults, based on a 2023 Osteoporosis International publication from the HPP International Working Group. HPP is a rare genetic metabolic bone disease characterized by low alkaline phosphatase levels and highly variable, non-specific symptoms such as fractures, chronic musculoskeletal pain, and premature tooth loss—often leading to delayed or missed diagnosis. This video highlights key findings from a large literature review that identified major and minor diagnostic criteria to improve recognition of adult HPP. Clinicians will learn how to apply these criteria in practice and better differentiate HPP from conditions like osteoporosis. Designed for rheumatology providers and advanced practice providers, this overview emphasizes the importance of early identification to improve patient outcomes. For more rheumatology education, explore the Content Rheum and the RhAPP ACE app.