Marfan syndrome – what are the signs and symptoms of Marfan syndrome?

Marfan syndrome
Marfan syndrome

Symptoms of Marfan syndrome

Marfan syndrome can affect many parts of the body, including the skeleton, eyes, and heart and blood vessels (cardiovascular system).

The severity of the symptoms varies widely. Some people experience a few mild symptoms, whereas others – about 1 in 10 – experience more severe symptoms.

The symptoms of Marfan syndrome tend to get more severe as a person gets older.

Skeleton

Someone with Marfan syndrome may have several distinct physical characteristics. They may be:

tall and slim, with long, thin arms and legs

have loose and very flexible joints

If your child is particularly slim or tall for their age, it doesn’t necessarily mean they have Marfan syndrome. It’s a rare syndrome, and your child will usually have a number of other symptoms if they have it.

Other physical characteristics of Marfan syndrome can include:

a small lower jaw

a high, arched palate (roof of the mouth)

deep-set eyes

flat feet

a breastbone (sternum) that either protrudes outwards or indents inwards

crowded teeth

Scoliosis

Marfan syndrome can cause the spine to become abnormally curved to the sides. This is known as scoliosis.

Curvature of the spine can cause long-term backache. In severe cases, it can also make breathing difficult as the spine may press against the heart and lungs.

Spondylolisthesis

Spondylolisthesis is where one of the bones in your spine (a vertebra) slips forward over another vertebra.

This usually occurs in the lower spine, and can cause back pain and stiffness. Anyone can develop spondylolisthesis, but it more commonly affects people with Marfan syndrome.

Dural ectasia

The dura is the membrane that lines your brain and spinal cord. Dural ectasia is a condition where the dura becomes weakened and expands outwards.

People with Marfan syndrome are at particular risk of developing dural ectasia. As the membrane expands, it can press on the vertebrae in your lower back, which can cause:

backache

headache

numbness or pain in your legs

Eyes

Many people with Marfan syndrome have some type of vision problem.

Lens dislocation affects half of all people with the syndrome. This is where the eye’s lens, the transparent structure that sits behind the pupil and focuses light, falls into an abnormal position.

Other possible eye-related symptoms of Marfan syndrome include:

myopia – short-sightedness

glaucoma – increased pressure in the eyeball which, left untreated, can cause permanent vision loss

aortic anyurism – where cloudy patches develop in the eye’s lens, causing blurred or misty vision

retinal detachment – where the light-sensitive layer of cells at the back of your eye (retina) begins to pull away from the blood vessels that supply it with oxygen and nutrients

Cardiovascular system

Marfan syndrome can affect the cardiovascular system, which is made up of your heart and blood vessels. It’s particularly serious if your aorta and heart valves are affected.

Aorta

The aorta is the main artery in the body. It runs from your heart, down the centre of your chest, and through your abdomen.

In people with Marfan syndrome, the walls of the aorta are weak. This can sometimes cause the aorta to enlarge and balloon, which is known as an aortic aneurysm.

In severe cases, the aorta can split (rupture), causing potentially fatal internal bleeding.

Valves

Your heart has four chambers that pump blood to and from the rest of the body. To control the flow of blood through your heart’s chambers, your heart has four valves:

mitral valve

aortic valve

tricuspid valve

pulmonary valve

These valves act as one-way gates, allowing blood to flow through in one direction. In some people with Marfan syndrome, the mitral or tricuspid valves don’t close properly and blood leaks back through the valve.

Read more about common mitral valve problems.

The aortic valve may also leak, leading to the main pumping chamber (left ventricle) gradually becoming enlarged.

Monitoring

If your GP thinks you may have Marfan syndrome, you’ll be referred to a specialist for testing. Your heart and blood vessels will be examined for the symptoms of the syndrome.

Read more about diagnosing Marfan syndrome.

Stretch marks

Stretch marks are pink, red, 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 isn’t as elastic as it should be.

If you have Marfan syndrome, stretch marks are most likely to appear on your:

shoulders

hips

lower back

Over time, they’ll gradually fade to a silvery colour and will be difficult to see.

Scoliosis – what are the signs and symptoms of Scoliosis and how can it be treated?


Scoliosis
Scoliosis

Some years ago I look a five week course in the Alexander technique to help me relax.   The Alexander Technique “teaches people how to stop using unnecessary levels of muscular and mental tension during their everyday activities”.  It is often used by people with back problems.  Indeed there was a lady in the group who suffered from scoliosis and she hoped that the technique would be of assistance.

This was the first but not the last time that I have come across Scoliosis in my professional and personal life.

Scoliosis is simply an abnormal curvature of the spine.  It should be noted that the effects and severity can be very different from person to person.

How common is it?  Until recently it was thought that Scoliosis was a condition which developed in childhood.  While 0.30% of children are born with Scoliosis it now seems that it may develop in  older people but only to a very minor degree.

The causes of Scoliosis really vary but in around 80% of cases they are simply unknown.  However people with Marfan syndrome, cerebral palsy, muscular dystrophy and Neurofibromatosis are all at higher risk.

Typical signs of Scoliosis are:-


1)      Visible curvature of the spine.  The lady at the group I was in did not have this.

2)      A tendency to lean to one particular side

3)      Clothes not hanging correctly

4)      There are some cases of bowel and bladder problems.

Back pain seems to be common with adults with Scoliosis.  You can read more about back pain at a previous blog http://patienttalk.org/?p=389.

A lot of children, with mild symptoms,  simply grow out of Scoliosis.  In some more severe occurrences a back brace can be used to help straighten the spine.  Unfortunately this can cause body image issues especially for adolescents.  It should be noted that surgery for children with Scoliosis is very rare.

With adults who have back pain various pain killers are often employed.

As well as raising awareness of Scoliosis one of the objectives of this blog post is to provide our readers with a space they can use to share their experiences.

It would be great if you could use the comments box below to tell us a bit about how Scoliosis has impacted you and your family.  It would be great if you could consider the following questions:-

a)      What were your signs of Scoliosis?  At what age was the diagnosis of Scoliosis made?

b)      Did you need treatments?  How effective were these treatments?

c)       Has Scoliosis had any long term effects on your lifestyle?

d)      Is there one piece of advice you would give to somebody whose child has been diagnosed with Scoliosis?

There questions are really only suggestions.  Anything would want to share about Scoliosis would be of great interest to our readers.

Thanks very much in advance.


Neurofibromatosis – what are the symptoms and treatments of Neurofibromatosis?


Neurofibromatosis
Neurofibromatosis

Last week my sister came round for the evening.  In the course of the conversation she mentioned that one of her university friends had had a child who had been diagnosed with Neurofibromatosis.  She tuned to me and said “You should write a blog on Neurofibromatosis”.

So here it is.  As with most of our informational blogs the objective is not just to raise awareness of Neurofibromatosis but also to allow people in the Neurofibromatosis community to share their stories and experiences to the benefit of others.

It is worth stating at the offset that there are two main types of Neurofibromatosis.  Rather splendidly referred to as Neurofibromatosis Type 1 (NF1) and Neurofibromatosis Type 2 (NF2).  This blog will concentrate on NFI because it is the much more common type affecting around 1 in 3000 births.  We’ll come back to NF2 in a future blog.

So what is Neurofibromatosis? Well both NF1 and NF2 refer to a set of genetic conditions which cause the growth or tumours at the end of nerves.  It should be noted that these tumours are benign i.e. non-cancerous.

So what does this mean in practice?  Firstly it is genetic condition which means that people with Neurofibromatosis are born with it.  That being said, in many cases, symptoms get worse of the years.

Typical signs and symptoms of Neurofibromatosis include:-

a)      Café-au-lait spots.  These are a kind of pale brown birth mark.  In fact a lot of kids have them.  But more than six by the age of 5 could be a symptom of Neurofibromatosis.

b)      Neurofibromas – these are soft bumps on or under the skin.

In some cases further symptoms can present which are more serious:-

c)       Raised blood pressure.

d)      Increased risk of developing a cancer known as malignant peripheral nerve sheath tumours.  According to the UK’s NHS perhaps 10% of people with NF1 will be affected by this cancer.

e)      Scoliosis or curvature of this spine.

f)       Some children may present learning difficulties at school

g)      In some cases depression and anxiety are also common.

As of yet there is no cure for Neurofibromatosis but a number of treatments are available.  Surgery for the tumours is common and effective.  Obviously it is important to control high blood pressure and this is normally done with medications.  For learning difficulties and behavioural issues therapy is considered the best course of action.

As we said at the beginning of the Neurofibromatosis blog post we are interested in hearing from people in the Neurofibromatosis community.  It would be great if you could share your story using the comments box below.

It would be good if you would like to think about the following questions when putting together your comments:-

a)      At what age were you or your loved one diagnosed with NF?

b)      What were the symptoms and signs of NF?  How did it progress?

c)       What were and are the effect s of NF on the lifestyle of you and your family?

d)      What treatments were used?  How effective were these treatments?

e)      What one piece of advice would you give to somebody or their families who has just been diagnosed with Neurofibromatosis?

We really look forward to reading your comments.  Please note that these questions are only a guideline.  Anything you have to share will be of huge interest to our readers.

Thanks very much in advance.