What is Marfan's Syndrome?
Marfan' syndrome is the most common disease affecting connective tissue.
Marfan syndrome causes weakened connective tissue in your body. Connective tissue is present in many organs of your body such as your heart, eyes, and blood vessels, and helps to support and attach these organs to other body parts.
What causes Marfan's Syndrome?
- Marfan's syndrome is a disease that you usually inherit from one of your parents.
- There is a mutation in one of the genes for a special protein called fibrillin, which is the main constituent of connective tissue.
- It is known as an autosomal dominant disorder - so if one of parents is affected, you have a 50% chance of inheriting Marfan's syndrome as you only need one abnormal gene to develop the disease.
- 25% of people with Marfan's syndrome have a "new mutation" which means that they developed the abnormal gene as a foetus from the egg or sperm of their parents, but their parents are not affected themselves.
- Affects both men and women
- 1 in 5,000 people have marfan's
As mentioned previously, the symptoms of marfan's can be widespread:
- Your bones:
- You will be taller and thinner
- Your may develop chest wall abnormalities such as pectus excavatum (where your ribs curve inwards and can cause chest pain or problems in breathing) or pectus carinatum (your chest becomes more rounded as your ribs curve outwards. This is usually asymptomatic and sometimes called "pigeon chest".)
- Scoliosis or curvature of the spine develops in over 60% of patients. This can cause changes in appearance, back pain, breathing problems and can put pressure on internal organs.
- Your joints may be more flexible (hypermobile)
- Your arms will be longer and out of proportion to the rest of your body (arm span may be greater than your height)
- You may have longer thinner fingers (arachnodactyly)
- You may problems with your hips which can result in pain, difficulty in walking and ultimately osteoarthritis
- your palate may be high-arched and your teeth could be over-crowded
- Your heart and blood vessels:
- Some patients develop mitral valve prolapse which is when one of the valves in the heart becomes floppy and leaky. This can be detected by hearing a murmur
- 70% of patients develop an aortic aneurysm. This is when the main artery of the body which travels from your heart to your legs dilates, widens and hence can become weak. In some cases, the aorta can burst or rupture which is life-threatening
- Your eyes:
- Your retina at the back of your eyes can tear or peal away (detachment)
- Your lens can move into an abnormal position - this is called lens dislocation and affects approximately 50 % of patients
- Other eye problems include glaucoma (increased pressure), cataracts (clouding of your lens) and myopia (short-sightedness)
- Other features:
- Stretch marks: due to weakened skin
- Spontaneous pneumothorax: this is when you have air between your ribs and lungs and can cause sudden chest pain, breathlessness and collapse of your lungs.
- Dural ectasia: the dura covers your brain and spinal cord. In marfan's syndrome, you can have pockets or balloons of dura especially in the lower back pressing on the nerves. This causes sciatic-type back pain, loss of sensation and difficulty walking.
Diagnosis can occur prenatally if there is a known family history, otherwise it can be discovered at any time until symptoms are suggestive.
Doctors can use special criteria to help them diagnose marfan's syndrome - the Ghent criteria includes various symptoms, test results and family history.
Diagnosis can be very complex and usually involves a variety of investigations:
- A detailed history including family history
- Clinical examination by your GP to look for the signs above - if your GP suspects marfan's syndrome, he or she will refer you to a specialist.
- Genetic testing looking for the abnormal gene - not always conclusive
- Chest x-ray to look for a widened aorta
- Echocardiocardigram (an ultrasound scan of the heart) to look for any valve or aortic abnormalities
- ECG to check for any problems with the rhythm of your heart
- CT or MRI scans look at the aorta, the spine and dura
- Eye examination checking for lens dislocation, retinal tears and any other abnormalities
- Spinal and Hip/pelvis x-rays
There is no cure for Marfan's syndrome. Therefore treatment is to control symptoms and prevent complications.
You may have various specialists to help you in managing your disease, such as a cardiologist (heart specialist), an orthopaedic surgeon (bone specialist) and an ophthalmologist (eye specialist).
- Your bones:
- Medication to help with pain
- Back braces to treat and limit scoliosis
- Surgery may be required for chest wall deformities or hip problems
- Your heart and blood vessels:
- Medication such as beta blockers or ACE inhibitors may be given to you to limit dilatation of you aorta.
- You may also require surgery to your heart to repair your aorta or a valve if necessary
- Your eyes:
- You may need glasses or contact lenses
- You may need laser eye surgery for a detached retina or cataract surgery
- If you develop glaucoma, you may be given eye drops or oral medication. If the pressure in your eyes cannot be controlled, you may then require laser therapy or surgery
- You and your family will be offered support and counselling to deal with your diagnosis
- you will be given advice regarding contact sports and diving according to your symptoms
Follow-up is essential:
- To supervise progression of your disease
- To prevent any complications
- To supervise your treatment
- Ton inform you of any new advances in treatment - for example, hormones can now be given in marfan's syndrome in early puberty to reduce height in adulthood
- To provide support for you and your family or carers
For more information and support, contact The Marfan Association UK or The Marfan Trust:
or telephone 01252 810 472
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Diagnóstico y tratamiento del síndrome de Marfan