There is currently no cure for Marfan syndrome. Instead, treatment focuses on easing 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 multi-disciplinary team (MDT). You will usually have a doctor who co-ordinates your treatment programme and makes sure that every aspect of the syndrome is closely monitored and treated, if necessary.
Treating 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.
Treatment for scoliosis (a curved spine) will depend on how severely your spine is curved.
If your child has been diagnosed with Marfan syndrome and also has scoliosis, the first line of treatment may be a back brace. A back brace will not cure scoliosis, but it may stop the condition from getting any worse, particularly while your child is still growing.
Back braces are custom-made supports. They fit around your shoulders and go down to your waist. The brace has to be worn for most of the day and night. Some children can find it very 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, you will usually require surgery 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 (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 is 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. If your chest is concave, this means it caves inwards. If your chest is convex, it protrudes outwards.
If your chest is severely concave, it may press against your lungs and affect your breathing. If your breathing is affected, 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 is removed.
A convex chest should not cause any health problems and will not usually require any treatment. However, some people with a convex chest choose to have it treated for cosmetic reasons.
Physiotherapy is a form of treatment that 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 to get around, physiotherapy may help to make your movement easier and more comfortable.
See the Health A-Z topic about Physiotherapy for more information.
Treating heart problems
Marfan syndrome can cause serious heart problems which, in some cases, can be fatal. Therefore, if you have heart problems, it is very important that your heart is treated as a priority.
You will need to have regular check-ups with a cardiologist (a specialist in treating heart conditions), who will be able to monitor your heart. This may mean having an echocardiogram every year. An echocardiogram is where an ultrasound scan is used to produce an image of your heart. The test can identify the structure, thickness and movement of each heart valve.
Therefore, any potential heart-related symptoms or complications can be detected and treated as soon as possible. Some of the possible treatment options for the heart are outlined below.
People with Marfan syndrome are often prescribed a type of medicine known as beta-blockers to help prevent damage to their heart.
Beta-blockers are usually used to treat high blood pressure (hypertension). However, people with Marfan syndrome are often prescribed this medicine, even if their blood pressure is normal. This is because beta-blockers decrease the strength of your heartbeat, which helps slow down any enlargement of the aorta (main artery).
Beta-blockers can cause side effects, which commonly include:
- cold hands and feet
- nausea (feeling sick)
See the Health A-Z: beta blockers for more information.
If your cardiologist feels that it is necessary, you may require heart surgery to help reduce your risk of developing any life-threatening complications.
The most common type of heart surgery that is performed for people with Marfan syndrome is an operation to either repair or replace an enlarged aorta. However, this operation must be carried out before your aorta becomes too big. If your aorta is severely enlarged, the risk of it tearing or rupturing (splitting) during the operation is too high for the benefits to outweigh the risks.
If your aorta is ruptured or torn, you will need to have emergency surgery.
Treating eye problems
If you have been diagnosed with Marfan syndrome, you may be referred to an ophthalmologist so that your eyes and vision can be assessed. You may also need to be assessed annually (each year) to check for any new developments.
Some of the eye problems that Marfan syndrome can cause are potentially serious and, in some cases, they may lead to a permanent loss of vision. This is why it is very important for your eyes to be assessed and, if necessary, treated as soon as possible.
Some of the treatment options for eye problems are outlined below.
If you develop cataracts as a result of Marfan syndrome, you may require surgery to replace the clouded lens with an artificial one. Cataract operations are usually performed as keyhole surgery (through a very small cut) under local anaesthetic (painkilling medication).
See the Health A-Z: childhood cataracts for more information about this procedure.
People with Marfan syndrome have a higher risk of developing glaucoma (a condition that is caused by increased pressure in the eyeball). Once glaucoma has caused a loss of vision, it cannot be cured. Therefore, your eyes will be carefully monitored to detect any signs of the condition.
Although it cannot be cured, it is usually possible to prevent glaucoma from getting worse. Treatment options can include eye drops, laser treatment or surgery.
See the Health A-Z: glaucoma for more information.
Glasses and contact lenses
If you are short-sighted, your vision can usually be corrected using glasses or contact lenses. If the lens (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 your vision is more significantly affected, the lens may need to be replaced with an artificial one.
Being diagnosed with Marfan syndrome can sometimes be emotionally difficult to deal with. 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 has been diagnosed with Marfan syndrome and you are finding it difficult to cope. They may be able to put you in touch with a support group or refer you to a counselling service.
See the Health A-Z topic about Counselling for more information.
Young people with Marfan syndrome may develop low self-esteem about their physical appearance. As the symptoms of the syndrome tend to be most apparent during the teenage years, young people may find them difficult to deal with. Speak to your GP if your child has low self-esteem and you are concerned about them.
You should not have to make any significant changes to your lifestyle if you are diagnosed with Marfan syndrome. However, keeping fit and eating a healthy, balanced diet will improve your overall health. You may also be advised to avoid some sports.
Some people with Marfan syndrome may not be able to participate in contact sports or those that are vigorously competitive, such as rugby. Other activities to avoid may include:
- scuba diving
This is because these types of activities can:
- strain your heart. Exercise raises your blood pressure and heart rate, which may increase the risk of an aortic tear occurring
- strain your joints. People with Marfan syndrome often have weak joints and therefore have an increased risk of sustaining a joint injury
Your cardiologist (heart specialist) will be able to advise you about which sports and activities are suitable for you.