Marfan syndrome

Our body needs connective tissue to help keep its structure, and to provide support. Connective tissue is normally strong and resilient. It is made up of a number of proteins, such as collagen, elastin and fibrillin.

 

Fibrillin

Marfan syndrome is caused by a defective gene which stops your body from making fibrillin. Fibrillin is a protein which helps to give your connective tissue elasticity (to help it move and flex) and strength (to help it support organs, and other parts of your body).

Most people will have lots of fibrillin in their bones, aorta (main artery) and within the tissue in their eyes. If you have Marfan syndrome, you do not have enough fibrillin, which means that these parts of your body can stretch abnormally when put under any kind of stress.

The defective fibrillin gene also causes some of the bones in your body to grow larger than they should. This is what gives people with Marfan syndrome a tall appearance, because their arms and legs tend to grow longer than normal.

How is Marfan syndrome passed on?

Most people with Marfan syndrome inherit the faulty gene from a parent who already has the disorder. A child can inherit the syndrome even if only one parent has the condition. This is because Marfan syndrome is an autosomal dominant condition, which means both parents do not have to have the faulty gene in order to pass it on.

Therefore, if you have Marfan syndrome, you have a 50% chance of passing the condition on to your child.

Approximately 25% of people with Marfan syndrome do not have a parent with the condition. The reason for this is that, in some cases, the fibrillin gene can mutate for the first time in the egg, or sperm, of a parent. Although the parent will not develop the condition, the mutated gene can sometimes be passed on to the child.

Our body needs connective tissue to help keep its structure, and to provide support. Connective tissue is normally strong and resilient. It is made up of a number of proteins, such as collagen, elastin and fibrillin.

Fibrillin

Marfan syndrome is caused by a defective gene which stops your body from making fibrillin. Fibrillin is a protein which helps to give your connective tissue elasticity (to help it move and flex) and strength (to help it support organs, and other parts of your body).

Most people will have lots of fibrillin in their bones, aorta (main artery) and within the tissue in their eyes. If you have Marfan syndrome, you do not have enough fibrillin, which means that these parts of your body can stretch abnormally when put under any kind of stress.

The defective fibrillin gene also causes some of the bones in your body to grow larger than they should. This is what gives people with Marfan syndrome a tall appearance, because their arms and legs tend to grow longer than normal.

How is Marfan syndrome passed on?

Most people with Marfan syndrome inherit the faulty gene from a parent who already has the disorder. A child can inherit the syndrome even if only one parent has the condition. This is because Marfan syndrome is an autosomal dominant condition, which means both parents do not have to have the faulty gene in order to pass it on.

Therefore, if you have Marfan syndrome, you have a 50% chance of passing the condition on to your child.

Approximately 25% of people with Marfan syndrome do not have a parent with the condition. The reason for this is that, in some cases, the fibrillin gene can mutate for the first time in the egg, or sperm, of a parent. Although the parent will not develop the condition, the mutated gene can sometimes be passed on to the child.

Marfan syndrome can affect many parts of your body. The main parts of the body affected by Marfan syndrome are the:

• skeleton,
• eyes,
• heart, and
• blood vessels.

The symptoms of Marfan syndrome can vary in severity from person to person. Some people may only experience a few mild symptoms, while others may experience more severe symptoms. Approximately one in 10 people with Marfan syndrome are severely affected. The symptoms tend to worsen as you get older.

Skeleton

There are several physical characteristics that people with Marfan syndrome tend to have. People with the syndrome are normally:

• tall,
• slim,
• have long, thin arms and legs, and
• have loose and very flexible joints.

If your child is particularly slim or tall for their age, it does not mean that they have Marfan syndrome. Marfan syndrome is a relatively rare condition, and your child will usually have a variety of other symptoms if they have the condition.

Other physical signs of Marfan syndrome can include:

• small bottom jaw,
• high, arched palate,
• deep set eyes,
• flat feet,
• breastbone that either protrudes outward or caves inward, and
• crowded teeth.

Scoliosis

Marfan syndrome can cause the spine to become curved. This is known as scoliosis. If the spine is curved it can cause chronic backache. In severe cases, the curvature of the spine may make it difficult to breathe, or the spine may press against your heart and lungs.

Spondylolisthesis

Spondylolisthesis is a condition that occurs when one vertebra (small bone in your spine) slips forward over another vertebra. It usually occurs at the bottom end of your spine. It can cause back pain and stiffness. Although anyone can develop spondylolisthesis, it is most common in people with Marfan syndrome.

Dural ectasia

The dura is the membrane (thin layer of cells) which lines your brain and spinal cord. Dura ectasia is a condition that occurs when the dura becomes weakened, and expands outwards.

People with Marfan syndrome are at particular risk of developing dura ectasia. As the membrane expands, it can press on the vertebrae (the bones which make up your spine) in your lower back. This can cause backache, headache and numbness or pain in your legs.

Eyes

Many people with Marfan syndrome will have some kind of vision problem. For example, over half of people with the syndrome have lens dislocation. Symptoms of Marfan syndrome that can effect your vision include:

• short sightedness (myopia),
• lens dislocation - when the lens in the eye falls into an abnormal position,
• glaucoma - a condition which is caused by increased pressure in the eyeball, and can cause permanent loss of vision if left untreated,
• cataracts - when the lens in the eye becomes clouded, and
• detachment, or tears, in the retina (the retina is nerve tissue that lines the back of the eye).

If you do experience vision problems, it may have implications for driving. See the 'useful links' section for how to inform the DVLA about medical conditons. 

Heart and blood vessels

Marfan syndrome can also affect your heart and blood vessels. Symptoms that affect the heart can potentially be very serious.

Marfan syndrome can affect the heart and blood vessels by causing an aortic aneurysm. The aorta is the main artery in your body, and runs from your heart down the centre of your chest and through your abdomen.

The walls of the aorta are weak in people who have Marfan syndrome. This can sometimes cause the aorta to become enlarged and bulge out. In severe cases the aorta can tear, or rupture, which can cause potentially fatal internal bleeding.

If your GP suspects that you may have Marfan syndrome, you will be referred for testing, so that your heart and blood vessels can be examined for the symptoms of the syndrome (see the 'diagnosis' section).

Stretch marks

Stretch marks are pink, reddish, or white streaks in the skin. They can appear when you gain or lose weight quickly, when you have a growth spurt during childhood, or during pregnancy.

People with Marfan syndrome often develop stretch marks because the tissue in their skin is weakened, and the skin is not as resilient as it should be. If you have Marfan syndrome, stretch marks are most likely to appear over you shoulders, hips, or lower back.

There is currently no cure for Marfan syndrome. Instead, treatment focuses on easing 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 health professionals and specialists. However, you will normally have a doctor who coordinates your treatment programme, making sure that every aspect of the syndrome is closely monitored and treated if necessary.

Some of the specialists who may treat you are listed below.

• Geneticist - a specialist in genetic disorders.
• Genetic counsellor - a health professional who provides information, emotional support, and guidance to people who have been diagnosed with a genetic condition.
• Cardiologist - a specialist in conditions that affect the heart.
• Ophthalmologist - a specialist in conditions that affect the eyes.
• Orthopaedic surgeon - a surgeon who specialises in treating conditions which affect the muscles, joints, or bones.
• General paediatrician - a specialist in treating babies and children.

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 impacts on 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 a curved spine (scoliosis) 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 they become used to wearing a back brace.

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

During the operation, your surgeon will normally take small pieces of your pelvic bone and insert them between several of your vertebrae, in order to help correct the overall shape of your spine. This is known as bone graft surgery. Eventually, the pelvic bone will 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 normally return to school four to six weeks after the operation. After 6-12 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 convex, it means it caves inwards, whereas if it is concave, it means that it protrudes outwards.

If your chest is severely concave, it may press against your lungs, affecting your breathing. If your breathing affected, you will normally require surgery 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, which is later removed once the breastbone and ribs are fixed into position.

A convex chest should not cause any health problems, and will not usually require any treatment. However, some people choose to have their convex chest treated for cosmetic reasons.

Physiotherapy

Physiotherapy is a form of treatment that can help you improve your range of movement. If skeletal problems are making it difficult for you to get around, physiotherapy may help to make your movement easier and more comfortable. Physiotherapy uses a variety of techniques, such as exercise, massage and manipulation.

Treating heart problems

Marfan syndrome can cause serious heart problems which, in some cases, may 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 who will be able to monitor your heart. In this way, any potential heart-related symptoms or complications can be detected and treated as soon as possible.

Some of the treatment options for the heart are outlined below.

Beta-blockers

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 normally 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 heart beat, which helps to slow down any enlargement of the aorta.

Beta-blockers can cause side effects, which commonly include:

• tiredness,
• cold hands and feet,
• diarrhoea, and
• nausea.

Surgery

If your cardiologist feels that it is necessary, you may require heart surgery to help reduce the risk of you developing any life-threatening complications.

The most common type of heart surgery that is performed for those 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, during the operation is too high for the benefits to outweigh the risks.

If your aorta does become 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.

Some of the eye problems 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 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.

Cataracts

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 normally performed as keyhole surgery under local anaesthetic.

Glaucoma

People with Marfan syndrome are at increased risk of developing glaucoma. Once glaucoma has caused a loss of vision, it cannot be cured. Therefore, your eyes will be carefully monitored in order to detect any signs of the condition.

Although it cannot be cured, glaucoma can usually be prevented from getting worse. Treatment can involve eye drops, laser treatment, or surgery.

Glasses and contact lenses

If you are short sighted, your vision can normally be corrected using glasses, or contact lenses. If the lens in your eye is dislocated, specially designed glasses or contact lenses can sometimes be used to refract light around the dislocated lens. However, if your vision is more significantly affected, the lens may have to be replaced with an artificial one.

Psychological support

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, concerned, 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.

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 this difficult to deal with. If you are concerned about your child, and their self-esteem, speak to your GP.

Lifestyle

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 help to improve your overall health.

Some people with Marfan syndrome may not be able to participate in vigorously competitive or contact sports. Activities such as scuba diving, weightlifting, gymnastics and climbing may also have to be avoided.

If you have Marfan syndrome, certain sports and activities may put added strain on your heart, which can increase your risk of an aortic tear or rupture occurring. Your cardiologist will be able to advise you about which sports and activities are suitable for you.