Management for Adults
Everyone’s experience of XLH is unique
The symptoms and their severity vary between individuals. Most people with XLH are diagnosed as children, and are likely to be on treatment already, but some may not be diagnosed until adulthood.
Adults with XLH can experience a wide range of symptoms, which include:
- Joint pain and stiffness
- Enthesopathy (ligament problems)
- Bone pain
- Dental abscesses
- Hearing problems
With such a wide variety of symptoms among patients, there isn’t currently a set treatment pathway for adults with XLH. Therefore, it’s important to know about the treatment options available in order to have frank and informed conversations with your specialist doctor.
Goals of treatment
In adults, treatment is generally used to:
- Reduce pain
- Reduce the extent of bone disease (osteomalacia)
- Improve fracture healing and recovery from surgery
Medicines for XLH
There are medicines available for XLH treatment. Some of these medicines do not treat the underlying cause of XLH (phosphate wasting). However, they can help improve the levels of minerals that the person with XLH is missing in order to try to minimize the symptoms.
Data have shown that the sooner these treatments are started in early life the more effective they are. Also, people who take their medicines regularly, as prescribed by their doctors, tend to be better able to cope with everyday life.
It is important to remember that XLH is a lifelong condition and the phosphate wasting continues, even in the absence of symptoms. Options for treatment should be discussed with your doctor.
Although you can purchase painkillers from your pharmacy, it is best to get them following advice from your doctor. Your family doctor or specialist will be able to advise you on dose and which painkillers are most suitable for the type of pain you have.You should inform your family doctor or specialist if you are taking any non-prescribed (pharmacy) medicines or complementary medicines, such as herbal or homeopathic treatments. Continuing to take your calcitriol (vitamin D) and phosphate supplements can also help to keep pain under control, so be sure to speak to your doctor about what may work best for you.
People with XLH often have trouble with their teeth and gums. Therefore, excellent dental hygiene and regular check-ups at the dentist are essential.
Help with hearing
Your ears have tiny bones in them that transmit sound and the ear canal is surrounded by bone. If these bones are affected by XLH it can affect your hearing. If you feel your hearing is being affected, talk to your healthcare team.
Physical therapy and occupational therapy
Pseudofractures, pain and bone misalignment can make everyday tasks much harder. An occupational therapist can help you develop strategies and provide you with aides and gadgets to help make everyday tasks easier. For example, they may be able to relieve foot and lower limb discomfort with specialist insoles, foot wear and possibly splints. Ask your healthcare team to refer you.
Stress or insufficiency pseudofractures are common for people with XLH. These can be caused by everyday activity. For example, climbing the stairs or walking strenuously are sometimes enough to cause a pseudofracture in the leg or foot. Stress or insufficiency pseudofracture symptoms include:
- Pain that lessens as you rest
- Pain that gets worse during normal, daily activities
- Swelling and tenderness
If you suspect a pseudofracture you should seek medical advice immediately.
Genetic counselling can help people considering parenthood with information on the nature, inheritance, and implications of XLH and help them make informed medical and personal decisions.
Additionally, other forms of counselling, such as CBT (cognitive behavioural therapy), may be worth investigating.
Please seek advice from your doctor