Doctor Brigham and Women's Hospital Cambridge, MA, United States
Disclosure(s):
J Carl Pallais, MD,MPH: No relevant disclosure to display
Hypophosphatasia (HPP) is increasingly recognized as an underdiagnosed, multisystem disorder in adults, with presentations that extend far beyond bone fragility. This session will provide a practical, case-based approach to identifying HPP in clinical practice, emphasizing subtle diagnostic clues such as persistently low or low-normal alkaline phosphatase, nonspecific musculoskeletal symptoms, and conditions that often lead to misdiagnosis. Participants will learn how to integrate clinical features, biochemical markers, and genetic testing into an efficient diagnostic framework, while avoiding common pitfalls. The discussion will also review treatment considerations, including how to identify patients who may benefit from targeted interventions. Through interactive cases and real-world examples, this session aims to enhance recognition of HPP and improve patient outcomes by promoting timely, accurate diagnosis and individualized management strategies.
Learning Objectives:
Describe the pathophysiology of hypophosphatasia (HPP) and its clinical manifestations in adults.
Apply diagnostic criteria to identify adults with HPP and understand common diagnostic challenges.
Describe evidence-based treatment options for adults with HPP.