Endocrine Abstracts

Background: X-Linked Hypophosphataemia (XLH) is a rare, progressive, hereditary phosphate wasting disorder characterised by a pathological increase in fibroblast growth factor 23 concentration/activity. Despite XLH being increasingly recognised as a chronic progressive disease, there are few data documenting its natural history or impact of treatment. The International XLH Registry will collect data to characterise burden of disease, disease progression and long-term outcomes....

Background: X-linked hypophosphataemia (XLH) is a genetic condition that causes significant skeletal deformities and is associated with lifelong disability and pain. In October 2018, the NHS in England recommended burosumab, an anti-FGF23 antibody, for treating XLH with radiographic evidence of bone disease in children aged 1 year and over, and in young people with growing bones. The clinical and cost effectiveness of burosumab for treating adults with XLH is ...

Background: Hereditary hypophosphatemia (HH) are rare diseases, characterized by excessive renal phosphate wasting and inappropriately low 1,25-dihydroxy-vitamin D causing hypophosphatemia. In children, the disease manifests as rickets and osteomalacia, in adults osteomalacia.Aim: The study aims to describe the co-morbidities more prevalent in adults (18y+) with HH and the median age at first diagnosis compared to controls.Methods:...

Background: Hereditary hypophosphatemia (HH) are rare diseases, characterized by excessive renal phosphate wasting and inappropriately low 1,25-dihydroxy-vitamin D causing hypophosphatemia. In children, the disease manifests as rickets and osteomalacia, in adults osteomalacia. Complications from the disease appear with increasing age, in adults characterized by pain, arthrosis, persisting deformities of long bones if not corrected during childhood causing compromised functions...