ESPE Abstracts

Background: X-linked hypophosphatemia (XLH) is a rare, progressive, genetic phosphate wasting disorder leading to rickets, lower limb deformities as well as short and disproportionate stature. The condition is inherited in the majority, however spontaneous mutations are reported in ≈30% of cases. Its rarity, coupled with its diverse clinical manifestations, may lead to delayed diagnosis and subsequently delayed treatment initiation. The objective of this an...

Background: X-linked hypophosphatemia (XLH) is a rare, progressive, phosphate-wasting disorder that compromises skeletal development in childhood. The international XLH registry (NCT03193476) is a non-interventional, observational, real-world data collection programme established in August 2017 in Europe and Israel, with enrolment open to patients of any age with XLH.Objectives: To describe real-world registry data on HR...

Introduction: X-linked hypophosphatemia (XLH) is a rare, progressive, genetic disorder causing phosphate wasting; hence symptoms in children include impaired growth, lower limb deformities, chronic pain and impaired physical function. Health-related quality of life (HRQoL) of patients with XLH on conventional therapy is lower than that of the general population. Burosumab has been shown to improve HRQoL in younger children and adults, but its effects in adoles...