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ea0081p548 | Calcium and Bone | ECE2022

Disease characteristics, disability, and quality of life in adult HPP patients with muscular symptoms and pain without skeletal manifestations – a cross-sectional analysis from the Global HPP Registry

Dahir Kathryn M. , Angel Martos-Moreno Gabriel , Linglart Agnes , Petryk Anna , Kishnani Priya S. , Rockman-Greenberg Cheryl , Martel Samantha E. , Ozono Keiichi , Hogler Wolfgang , Seefried Lothar

Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient activity of tissue nonspecific alkaline phosphatase (TNSALP).Methods: Baseline/pretreatment data from the Global HPP Registry were analyzed to compare HPP disease burden between adults (≥18 years of age) with skeletal manifestations (history of rickets, biopsy-proven osteomalacia, recurrent or poorly healing fractures/pseudofractures, etc; Skeletal group) ...

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Disease characteristics, disability, and quality of life in adult HPP patients with muscular symptoms and pain without skeletal manifestations – a cross-sectional analysis from the Global HPP Registry

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