Marfan syndrome is a genetic condition which affects the body's connective tissues. The connective tissues help to provide support and structure to other tissue and organs. Marfan syndrome can affect the connective tissues in many different areas of your body, such as your blood vessels, skeleton, and eyes.
Symptoms of Marfans Syndrome
The symptoms of Marfan syndrome vary from person to person. Some people are only mildly affected, while others develop more serious symptoms. Marfan syndrome is hereditary, which means that it is passed on to you from your parents. If you have Marfan syndrome, your child has a 50% chance of developing the condition.
Marfan syndrome is a relatively rare condition. Approximately 1 in 5,000 people have the syndrome. Men and women are equally affected. Although rare, Marfan syndrome is the most common connective tissue disorder.
As Marfan syndrome can affect your heart and blood vessels, it is a potentially serious condition. Although there is currently no cure for Marfan syndrome, treatments are available which can help to effectively manage your symptoms, greatly improving your prognosis and life expectancy.
Features Of Marfans Syndrome
Outwardly, sufferers are usually tall and thin with disproportionately long limbs. Indeed, their arms are often 10% longer than they should be. They may be scoliolitic (have a sideways twist of the spine) or kyphotic (hump-backed) and have a pigeon or stove chest. Their joint hypermobility could be such that sufferers can bend their thumbs back to touch their forearms, and their fingers back at 90 degrees, without discomfort.
Sufferers are often very myopic (short-sighted) and some have dislocation of the lens and detachment of the retina. Marfan patients may also suffer from overcrowded teeth and a high, arched palate.
The major problems affecting a person with Marfan's Syndrome are linked to the heart and major blood vessels. The aorta - the large artery carrying blood away from the heart, may become dilated. Usually the ascending aorta - the section directly after it leaves the heart - is at risk, but it can also occur further down the vessel where it leads to the abdomen and lower body. The danger with this is that a swollen area, known as an aneurysm, could eventually burst. The aorta itself is made up of two layers of tissue. These can be torn apart - a disastrous and life-threatening event, known as a dissection. Indeed, aortic dissection is the most common cause of death in Marfan patients today. This can often be prevented if it is known to be a risk factor by reinforcement with an artificial structure made from titanium.
The aortic and mitral valves of the heart can also be affected. Situated on the left side of the heart, these may become 'incompetent' and let blood through when they are closed. This means that the heart can't pump as much blood as is needed and eventually a mechanical valve may be necessary.
Diagnosis Of Marfans Syndrome
Generally, Marfan Syndrome is diagnosed after a careful physical examination focussing particularly on the the eyes, skeletal and cardiovascular systems.
Suspected Marfanoid patients can also be monitored by Echocardiogram (a sound-wave picture of the heart) for early signs of aneurysm or mitral valve prolapse (the valves can become floppy).
The affected gene, FBN1, was discovered in 1990 and the protein it codes for (fibrillin) was discovered the following year. This knowledge should help develop a more accurate diagnostic test which could be applied at a much earlier stage. Mutations in the FBN1 gene can be detected in 80% of patients, thus enabling family members to be screened. Diagnosis can then be confirmed by genetic linkage studies.
Effects on Lifestyle
Stretchy connective tissue means that the aorta is not as strong as it should be, and is thus prone to tearing. Consequently a Marfan's person needs to avoid strenuous exercise and stress, or anything that would put the heart under excessive load. Nevertheless, a person with Marfan Syndrome still needs to be physically fit in order to maintain muscle tone, as well as ensuring the effective functioning of the heart and blood vessels. Hence golf, fishing, walking and non-competitive cycling would be ideal activities. Contact sports such as basketball and rugby are probably best avoided.
Although no special diet is required, it would be prudent for the Marfan patient to choose their food wisely to ensure a balanced diet, rich in vitamins and minerals, particularly copper, which encourage the production of connective tissue.
For sources of copper see Copper
It used to be the case that Marfan's people died early of heart failure, but with modern drugs (ie, beta-blockers) and surgical intervention, longevity is now possible. Beta-blockers have been shown to slow the dilation of the aortic root.
Physiotherapy, attendance at pain clinics and bracing to stabilise curvature of the spine may be helpful with the skeletal effects. Lace-up shoes with ankle support, together with shoe inserts, may be helpful for weak ankles.
Spectacles or contact lenses may be prescribed to try and improve or correct visual defects; and surgery can replace ocular lenses and re-attach retinas.
Approximately 10% of Marfan patients suffer spontaneous pneumothorax (collapse of the lungs) and this requires hospital treatment.
I am now forty three years old. I was diagnosed with Marfans Syndrome when I was a year and a half old. The main symptom that I suffer with is that I am partially sighted. I also am very tall and my joints are very flexible. I have had echocardiogram’s every two years but have not experienced any problems with my heart. I have experience some problems with my back and this has been greatly helped by my osteopath StSephen Sandler http://www.osteopath-help.co.uk/osteopaths/cranial-osteopathy/uk/london/regents_park/dr_stephen_sandler_great_portland_stwho is a world expert.
I suggest that if you are very tall and that your arms are very long (usually Marfans patients arm span is longer than their height) I would suggest that you have a word with your GP as you may have Marfans.