Using algorithm technology and quality improvement support to identify and refer patients at high probability from Hypophosphataemic Rickets.
Hypophosphataemic Rickets/XLH
Hypophosphataemic Rickets or X-Linked Hypophosphateamia (XLH) is a treatable rare genetic bone disease, which presents with nonspecific and heterogeneous early symptoms leading to diagnostic delays and misdiagnosis.
Inheritance
XLH is caused by mutations in the phosphate regulating endopeptidase X-linked (PHEX) gene. The gene for XLH is located on the X-chromosome and XLH has an X-linked dominant mode [x-linked inheritance] of inheritance.
XLH is a pan-ethnic disorder and has a prevalence of 1-9/100000 worldwide.
Clinical Features
XLH is characterized by low levels of phosphate in the blood due to loss of phosphate in the kidneys (phosphate wasting). It is typically diagnosed in childhood and features include bone deformities, short stature, dental anomalies and bone and dental pain.
Early detection enables patients to access the right care pathways, improving quality of life and reducing disease progression
Quality Improvement Steps
Identification of patients that may have XLH
The XLH algorithm is applied to patient EMR records to identify patients who may be at high probability of XLH
Information for practices:
If you are a practice that has had a patient identified by the programme, our team will be in touch to discuss the next steps.
Information for patients:
If you are a patient, or parent of a patient, who has been identified by the programme, we will be in touch soon to talk about next steps.
If, in the meantime you have any medical concerns, please contact your GP practice as normal.
For more information on Hypophosphataemic Rickets visit XLH UK
For queries relating to FIX-LH please contact: Captured@opri.org.uk
Sponsor Disclosure: This initiative is supported and funded by Kyowa Kirin LTD.