What is hypophosphatasia?

HPP is a rare, inherited metabolic disorder that occurs in patients of all ages. HPP can affect multiple organ systems, including the skeletal, neurologic, muscular, renal and dental systems (Bloch-Zupan 2016; Linglart and Biosse-Duplan 2016; Rockman-Greenberg 2013; Whyte 2013). HPP can be life-threatening in neonates and infants and is associated with significant disability and potentially serious complications at any age (Rockman-Greenberg 2013; Weber et al., 2016; Whyte et al., 2015).

In young patients with severe and potentially life-threatening disease, a rapid diagnosis of HPP is critical (Saraff et al., 2016). Missed or delayed diagnosis of HPP can result in ineffective management strategies and/or use of inappropriate treatments, such as bisphosphonates, leading to worsening clinical outcomes, disability and poor quality of life (Cundy et al., 2015; Linglart and Biosse-Duplan 2016; Mohn et al., 2011; Moulin et al., 2009; Sutton et al., 2012). 

Early and accurate diagnosis of HPP is critical to avoid inappropriate management and worsening of clinical outcomes (Sutton et al., 2012; Cundy et al., 2015).


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