Treating Adults

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. 

XLH UK has collaborated on a proposed framework for a networked service model for care of adults with rare bone conditions

Pregnancy

During pregnancy, it’s essential to monitor and perhaps adjust vitamin D levels and consider higher phosphate supplements if needed. Pregnant women already on active vitamin D and phosphate supplements may continue it. Breastfeeding is encouraged for new mothers, regardless of whether they are on conventional treatment or not.

Pregnant women may experience additional pain throughout pregnancy due to the additional demands on the body. It is recommended that patients with rare bone conditions should receive close surveillance by healthcare professionals, beginning at preconception.

Family planning and IVF

In-vitro fertilisation (IVF) can be used to avoid passing on a genetic condition. Pre-implantation genetic testing for monogenic or single-gene disorders (PGT-M), previously known as pre-implantation genetic diagnosis (PGD), is a type of embryo testing that can be used by people with serious inherited conditions in their family. Only embryos that have been tested and found to be free of the condition are placed back into the woman’s womb.
The Human Fertilisation and Embryology Authority in the UK recognises that XLH is a serious inherited condition and has approved XLH for PGT-M.

Please raise this with your XLH doctor, asking to be referred to a genetic counsellor if would like to discuss this further.