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, who may include:
- 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 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 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.
There are a number of ways skeletal symptoms can be treated. Some of these are outlined below.
Loose, painful joints
Seventy per cent of people with Marfan syndrome have pain in and around their joints. Good posture, exercises, and the use of joint supports, as well as pain relief, such as paracetamol and non-steroidal anti-inflammatory drugs (NSAIDs), can prove helpful.
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 won't 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.
Read 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 two 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.
Read 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 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 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.
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, 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 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.
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).
However, most people with Marfan syndrome have low blood pressure (hypotension). 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 can't take beta-blockers, other similar medicines such as losartan or irbesartan may be recommended.
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 every year to monitor the diameter of the aorta. Surgery will be considered when it measures between 4.5cm and 4.8cm (about 1.8-1.9 inches).
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.
If you've been diagnosed with Marfan syndrome, you may be referred to an ophthalmologist, 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.
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.
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 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 transparent structure at the front of your eye (the lens) is dislocated, specially designed glasses or contact lenses can sometimes be used to bend (refract) 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.
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 will 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 because of their physical appearance. 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.
It's not usually necessary to make significant lifestyle changes if you have Marfan syndrome. However, a young person's career choice may be restricted.
Keeping fit through regular moderate exercise and eating a healthy, balanced diet will help improve your overall health.
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
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.
Page last reviewed: 10/03/2016
Next review due: 10/03/2018