Treating tuberous sclerosis

Tuberous sclerosis is a lifelong condition that requires long-term care and support from a range of different healthcare professionals.

If your child is affected, an individual care plan will be drawn up to address any needs or problems they have. As your child gets older, the plan will be reassessed to accommodate changes to their needs or situation.

Their care plan is likely to include details about any treatment or support they need, as well as the routine tests that will be necessary to monitor their condition.

Read on to learn about how tuberous sclerosis is monitored and some of the treatments available.

Monitoringthe condition

Regulartesting is important for people with tuberous sclerosis. This is so the function of the organsoften affected by the condition such as the brain, kidneys and lungs can be regularly monitored and assessed.

Tests and checks that may be recommended include:

• magnetic resonance imaging (MRI) scans to check for changes in tumours in the brain or kidneys
• ultrasound scans to check for heart and kidney tumours
• blood tests to check how well the kidneys are working and other things, such as vitamin D levels
• electrocardiograms (ECGs) to detect abnormal electrical activity in the heart
• computerised tomography (CT) scans to check the function of the lungs, such as measuring how much air a person can breathe out
• skin and eye examinations to look for any changes
• blood pressure measurements
• questions about your childs behaviour and development

How often these tests are needed will depend on your or your child's age and the symptoms they have. Some are carried out annually, while others are done once every few years.

Epilepsy

Epilepsy is a very common feature of tuberous sclerosis and can sometimes be difficult to control.

Medications to control the seizures(anti-epileptic drugs) will usually be tried first, although they're not always effective for people with tuberous sclerosis.

If the first medicine isn't effective, the dose can be increased. You can also try a different medicine, or you may be prescribed two medicines to take at once.

If medication doesn't control the seizures, one of the following procedures may be recommended:

• surgery to remove any tumours in your brain that may be causing the seizures
• vagus nerve stimulation (VNS) wherea small electrical device is implanted under the skinto send pulses of electricity to the brain
• a special diet (the ketogenic diet or a modified version of it)

Readabout treatments for epilepsy for more information.

Behavioural and learning problems

If your child is experiencing behavioural problems or has a learning disability, theymaybe referred to a psychologist for an assessment.

Aspecial educational needs plan maybe drawn up to outline any extra educational support your child may require.

For some children, it may be possible for extra support to be given at a mainstream school, while othersmay benefit from attending a special school.

They are a useful new treatment for some of the problems caused by tuberous sclerosis. Long-term studies carried out over several years have shown them to be very effective, and even longer-term studies are under way.

Skin problems

Abnormal growths or patches of skindon't usually present a serious health problem, but their appearance can affect a person's confidence and self-esteem.

Laser therapy can be used to improve the appearance of the skin if necessary. If the growths or patchesreturn, repeated laser therapy may be required. Using suncream isalso important to protect the skin.

Research has shown the effectiveness of mTOR inhibitor cream in treating skin abnormalities caused by tuberous sclerosis. The rash also usually shows significant improvement in those taking mTOR inhibitors as tablets for their kidneys or brain tumours.

Kidney tumours

Treatment for kidney tumours and growths will depend on the problems they cause.

For example, ifkidney tumours cause high blood pressure (hypertension), medicine can be used to help lower it.

Everolimusmay be used to stop tumours becoming too large, as large tumours can causedangerous bleeding. However, as this is a relatively new treatment, the long-term effects are not yet fully known.

Ifa tumourbleeds, a procedure called embolisation may be recommended.A special substance is injected into the tumour to block its blood supply, whichstarves it of oxygen and nutrients, causing it to shrink.

Very rarely, if you have a severe or total loss of kidney function, you may require dialysis or a kidney transplant .

Heart tumours

In most cases, heart tumours will not need treatment. Heart tumours in babies usually shrink as the child gets older, until they are barely detectableas adults.

However, in some rare cases, surgery may be required to remove the tumours if they begin to seriously affect the functioning of the heart.

Sometimes, the heart tumours affect the electrical conduction on the heart and cause abnormal heart rhythms. These problems occasionally need treatment with medication.

Lung tumours

Women with lung tumours may require medication to shrink the tumours.

Research has shown that a mTOR inhibitor called sirolimus is effective, although it can cause side effects such as feeling sick and constipation or diarrhoea. Its available to treat lung tumours caused by tuberous sclerosis through the National LAM Centre at the University Hospital of Nottingham.

If lung tumourslead to a collapsed lung, emergency surgeryis required to repair the lung and drain any air that has escaped into the chest.

In very severe cases, a lung transplant may be required.

Eye tumours

Eye tumours rarely need anytreatment, because they don't usually grow big enough to impair vision. In rare cases, where vision is affected,a technique called photocoagulation can be used.

Photocoagulation is a type of laser surgery that uses lasers to burn away the blood vessels supplying the eye tumours with blood. Blocking the blood supply should shrink the tumours.