Marfan syndrome - Treating 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 working together in a multidisciplinary team (MDT).

Your MDT will consist of some of the following specialists:

• a geneticist – a specialist in genetic disorders
• a genetic counsellor – who provides information, emotional support and guidance to people who've 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 or 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 that 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.

However, there are a number of ways that the skeletal symptoms of Marfan syndrome can be treated. Some of these are outlined below.

Scoliosis

Treatment for scoliosis (curvature of the spine) 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, a back brace may be recommended. The brace won't cure scoliosis, but it may stop the condition getting worse, particularly in children while they are still growing.

Back braces are custom-made supports that fit around the shoulders and go down to the waist. The brace has to be worn for most of the day and night. Some children find it difficult to adapt to wearing a back brace because they can feel awkward and uncomfortable at first.

However, a back brace will only be effective if your child wears it for the correct amount of time. After a while, most children will find that they become used to wearing a back brace.

If the curve of your spine is greater than 50 degrees, surgery will usually be needed to help straighten it. Surgery is the only way to cure scoliosis.

During the operation, your surgeon will usually take small pieces of your pelvic bone (the ring of bone that supports your upper body, also called the hip bones) and insert them between several of your vertebrae (the bones in your spine). This is known as bone graft surgery and will help correct the overall shape of your spine.

The pelvic bone will eventually fuse with your spine, helping to straighten it. Metal rods and screws will be used to help keep the bone in place while it's fusing together.

This bone-fusing process can take several months, and it may take up to a year before the bones have completely fused together. Children who have the surgery can usually return to school four to six weeks after the operation.

After 6 to 12 months, most people who have had the surgery will be able to resume all of their normal activities, including playing sports.

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.

Rarely, if your chest is severely concave, it may press against your lungs and affect your breathing. In this case, surgery will usually be required to help ease the pressure on your lungs.

Surgery for a concave chest involves raising the breastbone (sternum) and ribs and fixing them into place with a metal bar. Once the breastbone and ribs are fixed into position, the bar will be removed.

A convex chest shouldn't cause any health problems and won't usually require treatment. However, some people with a convex chest choose to have treatment for cosmetic reasons.

Physiotherapy

Physiotherapy uses physical methods such as exercise, massage and manipulation to promote healing and wellbeing. It can help improve your range of movement.

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. It's therefore important that your heart is treated as a priority.

You'll need to have regular check-ups with a cardiologist (heart specialist), who will be able to monitor your heart. This may mean having a yearly echocardiogram, where an ultrasound scan produces an image of your heart.

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

Some of the possible treatment options for the heart are described below.

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 hypertension (high blood pressure).

However, most people with Marfan syndrome have low blood pressure. 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.

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 either repair or replace an enlarged aorta.

However, this operation must be carried out before the aorta becomes too big. An echocardiogram will be carried out every year to monitor the diameter of the aorta. Surgery will be considered when it measures between 4.5 and 4.8cm.

If your aorta is severely enlarged, the risk of it tearing or rupturing (splitting) 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've been diagnosed with Marfan syndrome, you may be referred to an ophthalmologist (an eye care specialist), who will 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.

Some of the treatment options for eye problems are outlined below.

Cataracts

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

Cataract surgery is usually performed as keyhole surgery (through a very small cut) under local anaesthetic (painkilling medication that numbs the area being operated on).

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 a loss of vision, it can't be cured. Your eyes will therefore be carefully monitored to detect any signs of the condition.

Although glaucoma can't be cured, it's usually possible to prevent it getting worse. Treatment options include eye drops, laser treatment or surgery.

Read more about how glaucoma is treated.

Glasses and contact lenses

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

If the lens (the transparent structure at the front of your eye) is dislocated, specially designed glasses or contact lenses can sometimes be used to refract (bend) light around the dislocated lens.

In rare cases where a person's vision is significantly affected, the lens 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 condition, you may be worried or upset about how it will affect them.

Speak to your GP if you or your child is finding the diagnosis difficult to cope with. They may be able to put you in touch with a support group through Marfan Association UK or refer you to a counselling service.

Young people with Marfan syndrome may develop low self-esteem because of their physical appearance. As the symptoms of the syndrome 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

If you have Marfan syndrome, it's not usually necessary to make significant lifestyle changes. However, a young person's career choice may be restricted.

It should be noted that keeping fit by exercising regularly and eating a healthy, balanced diet will help improve your overall health. You may also be advised to avoid some sports.

Sport

Some people with Marfan syndrome may not be able to participate in contact sports such as rugby. Other activities that may need to be avoided include:

• long distance running
• heavy weightlifting
• gymnastics
• climbing

These types of sports 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.