Marfan syndrome treatment deals with procedures that are focused towards managing the various complications which arise because of the disorder. So, get a brief overview on what the treatment is all about.
The framework and support of the body are managed by different fibers, also known as the connective tissues. These very tissues are affected by what is known as Marfan syndrome. As a result, the skeletal system, blood vessels, heart, lungs, eyes and other organ systems are affected by this syndrome. This illness is genetic by nature, meaning, if a parent is affected, the offspring has a 50-50 chance of inheriting the same.
Marfan syndrome can also develop with effect from a new change in the genetic material, but in most cases, it is inherited. The condition may be mild to severe and cases which are too serious, can even turn out to be fatal. According to surveys, about 1 in 5000 falls victim to this disease.
How is Marfan Syndrome Treated?
Depending on the organ system(s) which is or are affected, the treatment plan to manage Marfan syndrome is decided upon. Unfortunately, no remedy or cure has evolved in medical science for doing away with this illness for good. What best can be done is to seek medical treatment which can help patients lead better quality of life.
If the disease has affected the cardiovascular systems of the body, then there might occur serious complications which might be fatal. So, in such a case, the treatment would involve annual heart exams. Medications to lower blood pressure are prescribed with an aim to keep the aorta (the large trunk artery that carries blood from the left ventricle of the heart to branch arteries) from enlarging. These medications also reduce the risk of dissection, a fatal condition wherein a small tear in the innermost layer of the aorta’s wall allows blood to squeeze in between the inner and outer layers of the wall.
The drugs are used basically to make the heart slower and with less force. This in turn reduces the complications of any damage to the heart. The enlargement of aorta, which is a major complication of Marfan syndrome, in some cases, may attain a dangerous size which may result in a life-threatening rupture. So, this can be managed by a surgery to replace a portion of the aorta with an artificial material.
Marfan syndrome causes complications associated with the skeletal system of the body, such as scoliosis and concave chest. The former condition is an abnormal lateral curve to the vertebral column and this could be managed by using custom-made back brace. The brace may not be able to straighten the spine, but it helps in keeping it from becoming worse.
However, people whose spine are greatly curved may require a surgery. Coming to concave chest, it really doesn’t affect the functionality in the body, but it may be a cosmetic concern. In order to manage this, a surgery to raise the sternum (the flat bone that articulates with the clavicles and the first seven pairs of ribs) and ribs may be opted for the treatment.
Other complications like dislocated lens can be treated with the use of glasses or contact lenses or even intraocular lens implants. Glaucoma can be improved with the medications and surgeries and cataracts can be addressed to by surgery. Retinal displacement is also one of the complications which occur from this disorder. Even this condition can be looked after by surgeons.
Main Symptoms
This disease is known to bear the tendency of worsening with age and as it may affect different systems of the body, its symptoms may greatly differ from person to person. It may also happen that members of the same family, may exhibit different symptoms. However, the common symptoms of the syndrome include disproportionately built arms, legs, fingers and toes, accompanied by a tall and thin structure of the body. People suffering from Marfan syndrome may have their breastbone protruding outwards or dipping inwards and not in a normal position.
Patients may also suffer from severe myopia (nearsightedness) and heart murmurs (an abnormal sound of the heart; sometimes a sign of abnormal function of the heart valves). It is also common to notice high, arched palate and crowded teeth in affected people, curved spine and flat feet. In some cases, hyper-flexibility of joints, long narrow face, small jaw and wing span that is way greater than height may also be indicative of this disorder.
Responsible Factors
There is this gene is the body that is responsible for producing a certain protein. This protein provides the connective tissues its elasticity and strength. And Marfan syndrome occurs when this very gene turns out to be defective. A defective gene from only one parent is enough to cause the same disease in the offspring and thus, the disorder is known as an autosomal dominant one. That is the reason why children have a 50-50 chance of contracting the disease from their parents.
Speaking about the cost of the treatment, it depends on the severity of the condition and the parts of the body which are affected. The treatment methods for Marfan syndrome have been developed with a purpose to help affected people lead a normal life as others. However, more important than the treatment is the need of emotional and coping support of friends, family, near and dear ones. Keeping oneself abreast about the information regarding the disease, providing sufficient medical care and love and support can make life easier and happier for both children and adults.
