Treatment - Marfan syndrome

There's currently no cure for Marfan syndrome. Treatment focuses on managing the symptoms and reducing the risk of complications.

As Marfan syndrome affects several different parts of the body, your treatment programme will involve a number of healthcare professionals.

These may include:

• a geneticist – a specialist in genetic disorders
• a genetic counsellor – who provides information, emotional support and guidance to people who have been diagnosed with a genetic condition
• a cardiologist – a specialist in heart conditions
• an ophthalmologist – a specialist in conditions that affect the eyes
• an orthopaedic surgeon – a surgeon who specialises in treating conditions that affect the muscles, joints and bones
• a paediatrician – a specialist in treating babies and children up to the age of 16

You'll usually be assigned a doctor to co-ordinate your treatment programme and ensure every aspect of the syndrome is closely monitored and, if necessary, treated.

Skeletal problems

Skeletal problems that develop as a result of Marfan syndrome can sometimes cause significant pain and discomfort.

They may also affect your appearance, which some people find affects their confidence and self-esteem.

Loose, painful joints

Many people with Marfan syndrome have pain in and around their joints – most commonly in the hips.

Moderate exercise, as well as pain relief like paracetamol and non-steroidal anti-inflammatory drugs (NSAIDs), can prove helpful.

Scoliosis

Treatment for curvature of the spine (scoliosis) will depend on how severely your spine is curved.

If your spine is mildly curved, your treatment team will closely monitor it to see whether it gets worse.

In some cases, particularly in children who are still growing, a back brace may be recommended. The brace will not cure scoliosis, but it may stop it getting worse.

A back brace usually needs to be worn for 23 hours a day, and is only removed for baths, showers, swimming and contact sports.

Some children find wearing a back brace difficult at first, but it needs to be worn for the correct amount of time to be effective.

Surgery will usually be needed to straighten your spine if it curves by 40 degrees or more.

Straightening the spine will help alleviate problems such as restricted breathing and back pain.

A number of different types of surgery can be used to treat scoliosis.

The type recommended will depend on your age and individual circumstances.

In young children (generally those under the age of 10), growing rods are inserted, which allow for continued growth while partially correcting the curvature of the spine.

In teenagers and young adults, an operation called spinal fusion may be carried out.

This is where the spine is straightened using metal rods that are attached with screws, hooks, and wires. Bone grafts are used to fuse the spine in place.

Find out more about scoliosis surgery in children, teenagers and young adults

Surgery for adults with scoliosis is usually only recommended if the spinal curvature is severe, getting significantly worse, or the nerves in the spine are being compressed.

The 2 main types of surgery used are decompression surgery, where the disc or bone pressing on a nerve is removed, and spinal fusion surgery.

These are major operations that can take a year or more to fully recover from.

They also carry a risk of potentially serious complications, such as infection, blood clots and, in rare cases, nerve damage.

Find out more about scoliosis surgery in adults

Convex and concave chest

Marfan syndrome can sometimes affect the natural position of the chest.

Your chest is concave if it caves inwards, and convex if it protrudes outwards.

In rare cases, a person's chest can be severely concave and press against their lungs, affecting breathing.

Surgery will usually be required to help ease the pressure on the lungs.

Surgery for a concave chest involves raising the breastbone (sternum) and ribs, and fixing them in place with a metal bar.

Once the breastbone and ribs are fixed in position, the bar will be removed.

A convex chest should not cause any health problems and will not usually require treatment.

But some people with a convex chest choose to have treatment for cosmetic reasons.

Cosmetic treatments are not usually available on the NHS.

Physiotherapy

Physiotherapy uses physical methods such as exercise, massage and manipulation to promote healing and wellbeing.

It can help improve your range of movement and strengthen muscle support.

If skeletal problems are making it difficult for you to get around, physiotherapy may help make moving easier and more comfortable.

Heart problems

Marfan syndrome can cause serious heart problems, which can be fatal. This means it's important that your heart is treated as a priority.

You'll need to have regular check-ups with a cardiologist, who'll be able to monitor your heart.

This may mean having a regular echocardiogram, where an ultrasound scan produces an image of your heart.

An echocardiogram can identify the structure, thickness, and movement of the aorta and each heart valve, enabling any potential heart-related complications to be detected and treated as soon as possible.

There are a range of treatment options for heart problems.

Beta blockers

People with Marfan syndrome are often prescribed a type of medicine called beta blockers to help prevent damage to their heart.

Beta blockers are used to treat high blood pressure (hypertension).

In this case, beta blockers help slow down your heart rate and decrease the strength of your heartbeat, which in turn helps to slow down any enlargement of the aorta.

If you cannot take beta blockers you may be prescribed an angiotensin receptor blocker (ARB) such as losartan or irbesartan.

Surgery

If your cardiologist feels it's necessary, you may need to have heart surgery to reduce your risk of developing life-threatening complications.

The most common type of heart surgery carried out on people with Marfan syndrome is an operation to replace a section of an enlarged aorta. 

This operation must be carried out before the aorta becomes too big. You'll have an echocardiogram regularly to monitor the diameter of the aorta.

If your aorta is severely enlarged, the risk of it tearing or splitting (rupturing) during the operation will be too high for the benefits to outweigh the risks.

Emergency surgery will be needed if your aorta ruptures or tears.

Eye problems

If you have been diagnosed with Marfan syndrome, you may be referred to an ophthalmologist, who'll assess your eyes and vision.

You may also need to have an annual check-up to help identify any new developments.

Eye problems associated with Marfan syndrome are potentially serious and may lead to a permanent loss of vision.

Cataracts

If you develop cataracts as a result of Marfan syndrome, you may need surgery to replace the clouded lens with an artificial lens.

Cataract surgery is usually performed as keyhole surgery, through a very small cut, under local anaesthetic.

Glaucoma

People with Marfan syndrome have a higher risk of developing glaucoma, a condition caused by increased pressure in the eyeball.

Once glaucoma has caused vision loss, it cannot be cured. Your eyes will therefore be carefully monitored to detect any signs of the condition.

Although glaucoma cannot be cured, it's usually possible to prevent it getting worse.

Treatment options include eyedrops, laser treatment or surgery.

Find out how glaucoma is treated

Glasses and contact lenses

If you're short-sighted, your vision can usually be corrected using glasses or contact lenses.

In rare cases where a person's vision is significantly affected, the lens of the eye may need to be replaced with an artificial one.

Psychological support

Being diagnosed with Marfan syndrome can sometimes be difficult to deal with emotionally.

If your child has been diagnosed with the syndrome, you may be worried or upset about how it'll affect them.

Speak to your GP if you or your child are finding the diagnosis difficult to cope with.

They may be able to put you in touch with a support group through the Marfan Trust or refer you to a counselling service.

Young people with Marfan syndrome may develop low self-esteem.

As the symptoms tend to be most apparent during the teenage years, a young person may find them difficult to deal with.

Speak to your GP if you're concerned.

Lifestyle

It's not usually necessary to make significant lifestyle changes if you have Marfan syndrome. But a young person's career choice may be restricted.

Keeping fit through regular moderate exercise and eating a balanced diet will help improve your overall health.

Sport

If you have Marfan syndrome, you may be advised to avoid certain sports.

For example, some people may not be able to participate in contact sports like rugby.

Other activities that may need to be avoided include:

• long-distance running
• heavy weightlifting
• gymnastics
• climbing
• scuba diving

These types of sporting activities can place a strain on your heart. They raise your blood pressure and heart rate, which may increase the risk of an aortic tear.

These activities also place a strain on your joints. As people with Marfan syndrome often have weak joints, their risk of sustaining a joint injury during these activities may be increased.

Your cardiologist will be able to give you more advice about which sports and physical activities are suitable for you.