What is Marfan syndrome? Signs, symptoms and treatment for the genetic disorder
Around 10,000 people in the UK suffer from Marfan syndrome
ACCORDING to the Marfan Association around 10,000 people in the UK suffer from Marfan syndrome.
But what do we know about the hereditary condition, and what are the symptoms?
What is Marfan syndrome?
Marfan syndrome is a genetic disorder that affects the body's connective tissues which help maintain the body's structure and support the internal organs.
The condition is caused by a single abnormal mutation of the gene, fibrillin, a connective tissue which is known as the “glue and scaffolding of the body”.
Marfan syndrome is often hereditary and in 75 per cent of cases, the sufferer has developed the condition from a parent.
This means, even if just one parent has Marfan syndrome, any of their potential children have a 50 per cent chance of developing the disorder.
However, while it is usually inherited, around 25 per cent of cases occur when the mutant gene appears in an egg or a sperm.
The syndrome affects both male and females of any ethnic group.
What are the symptoms of Marfan syndrome?
Marfan syndrome can affect a number of different parts of the body, including the skeleton, eyes, and heart and blood vessels.
The severity of the condition is different for each person, with around 1 in 10 experiencing more extreme symptoms than others.
However, the symptoms tend to get more severe as the sufferer gets older, according , some of the common signs include:
Body:
- Tall and slim, with long, thin arms and legs
- Have loose and very flexible joints
- 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
Eyes:
- Short-sightedness
- Glaucoma – increased pressure in the eyeball which, left untreated, can cause permanent vision loss
- Cataracts – 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
Serious symptoms of Marfan syndrome
- Scoliosis: Marfan syndrome cause the spine to become curved to the sides and in extreme cases it can result in difficulty breathing
- Spondylolisthesis: It commonly affects people with Marfan syndrome and it's when one of the bones in the spine slips over another and causes back pain and stiffness
- Dural ectasia: People with Marfan syndrome are likely to develop this condition and it can cause backache, headaches and numbness as the membrane that lines your brain and spinal cord expands
- Cardiovascular problems:As the walls of the main arterty, the aorta, are weak in Marfan synddrome sufferers they can suffer cardiovascular issues particularly if the aorta split and result in potentially fatal internal bleeding
Source: NHS UK
What is the treatment for Marfan syndrome?
Currently there is no cure for Marfan syndrome however there are a number of ways to help deal with the symptoms recommended by a variety of medical professionals, these include:
Body:
- Joint supports
- Pain relief such as paracetamol non-steroidal anti-inflammatory drugs (NSAIDs)
- Back brace
- Surgery to straighten your spine
- Growing rods
- Surgery to ease the pressure on lungs
- Physiotherapy
- Ultrasound scans and regular check-ups for the heart
- Beta-blockers to treat high blood pressure
- Avoiding sports or exercise that could put pressure on the heart
Eyes:
- Annual eye check-ups
- Cataracts surgery
- Glasses and contact lenses subscription
