Treatment is evolving all the time, but it helps to understand what best care looks like for XLH. International XLH Alliance, supporting XLH patient groups around the world, has produced this useful summary which you can use to advocate for your better care.
A specialist who knows and understands the challenges posed by XLH can play an important role in your care. You may also need guidance when family planning. Our family planning page has more information on the genetics of how XLH is passed through family lines.
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Treatment of Adults
We suggest that adults with XLH be seen at regular intervals by multidisciplinary teams organised by an expert in metabolic bone diseases. The symptoms and complications of XLH vary widely from patient to patient; so treatment and monitoring should be tailored to the patient based on their symptoms, medical history, stage of development and the clinician’s professional judgement.
The clinician should liaise with the patient’s local health-care providers, such as the GP, radiologists, orthopaedic surgeons, physical therapists, rheumatologists and dentists. In addition, the following professions might be involved based on individual patient needs: neurosurgeons, otolaryngologists (ENTs), ophthalmologists, orthodontists, dieticians, chiropodists, social workers and psychologists.
For adults with symptoms like musculoskeletal pain, pseudofractures, dental issues, or biochemical signs of weak bones (osteomalacia), treatment is recommended.
The current standard treatment involves taking active vitamin D and phosphate supplements, which can help reduce pain and improve bone health.
Taking the supplements can be challenging for some people and can have serious side effects including gastrointestinal distress, diarrhoea, kidney stones, nephrocalcinosis, and hyperparathyroidism. It is essential to maintain your appointments with your clinical expert to mitigate side effects while getting the most out of available treatment.
For certain orthopaedic problems, surgery might be necessary in addition to medical treatment to correct bone deformities and treat fractures.
Remember, it’s essential to work closely with your healthcare provider to find the best treatment plan for you or your loved ones.
Early Access Programs (sometimes called Expanded Access, Pre-approval Access, Compassionate Use, Named Patient or Managed Access Programs) give people with life threatening or seriously debilitating conditions early access to new medicines that do not yet have a marketing authorisation but where there is a clear unmet medical need.
Early access programmes represent a unique opportunity to gather real-world evidence – the first opportunity outside of the clinical trial setting – from a cohort of patients all receiving the same treatment. In the UK, burosumab has been made available for a small number of adults under the care of specialists, who are responsible for monitoring clinical outcomes. The results from this programme is part of the evidence used by those responsible for Health Technology Assessments (NICE, SMC etc.) to decide on treatment efficacy.