ESPE Abstracts (2018) 89 S7.2

Hypophosphatasia: Disease and Treatment

Nick Bishop


University of Sheffield and Sheffield Children’s Hospital, Sheffield, UK.


Hypophosphatasia affects both hard and soft tissues. Its manifestations may become apparent at any time from fetal life to old age and the range of its severity and presentation varies perhaps more than any other metabolic bone disease. With the advent of enzyme replacement therapy, children who would have died not only survive, but can also thrive. As follow-up of treated children continues, we are beginning to understand the potential for complications of treatment and co-morbidities emerging from the disease, as well as being able to provide better prognostic information for families. Continued research in the field is providing new insights into the biology of mineralisation and the role of pyrophosphate and other mineralisation inhibitors both in bone and in other tissues. The emerging issues of musculoskeletal pain and fatigue raise questions about the relationship of muscle and bone in disease settings; these manifestations of HPP remain a target for treatment in those patients who are otherwise apparently mildly affected.

Article tools

My recent searches

No recent searches.

My recently viewed abstracts