What Is Marfan Syndrome?
Marfan syndrome is not a widely known disorder and therefore many people are not aware of it at all
. However, it is diagnosed in 1 out of every 5,000 people worldwide, and is a very real disorder and problem among individuals affected and their friends and families. There is much to know and understand about Marfan syndrome, including its history, what it is really all about, as well as symptoms, causes and treatments for the various problems that Marfan syndrome causes. Knowledge about the Marfan Syndrome is the clue, as immediate and good care can often mean the difference between a long, relatively normal life and a life burdened by various complications of the disease, with a reduced lifespan.
History
Marfan syndrome is named after a French doctor named Antoine Marfan, the man who discovered this rare disorder. Since then, Marfan syndrome has been widely studied to discover what it is all about, what causes it, whether it affects both genders and all ethnicities the same, coming up with new treatments, and learning the pattern of its occurrence.
Overview
Marfan syndrome is a disorder that affects the connective tissues of the body. This means the glue that holds bones and joints together is affected and weak. Eyes, skin, skeletal system, and cardiovascular system are all affected, and complications from this affection often arise and are what really cause problems as a result of Marfan syndrome. Marfan syndrome affects males and females, as well as all ethnicities. Marfan syndrome is hereditary, and everyone who has Marfan syndrome is born with it.
Causes and Symptoms
Marfan syndrome is caused by a genetic defect, and is not contagious or transmittable. The gene that is defective in cases with Marfan syndrome is fibrillin-1. Fibrillin-1 is a protein responsible for building strong connective tissues. Symptoms of MFS include a thin, narrow face, either funnel chest or pigeon breast, learning disability, arched palate and crowded teeth, hypotonia, small lower jaw, and flat feet. There are several other symptoms as well, including very long and thin arms and legs with long, spider-like fingers, coloboma of the iris, nearsightedness, dislocation of the lens in the eye, and scoliosis. These are all external symptoms that can be discovered just by appearances, but there are several more important inner symptoms of Marfan syndrome that can be more dangerous, including a weak aorta and aortic valve, and weak heart muscles.
Treatments
Treatments for Marfan syndrome depend greatly on the symptoms presented. As there is no primary cure for this genetic disease, treatment options include preventive and secondary measures. Antibiotics before dental work to prevent endocarditis is a common treatment in people with Marfan syndrome. There are several different surgical procedures those with MFS can undergo that will give them immediate physical relief and will also increase their life expectancy by up to thirty years. Surgical procedures to repair eye-problems, or to strengthen and repair the aorta and/or aortic valve are all possible, and there are also some surgeries available to help repair joints and bones affected by the weak connective tissue, like the chest bones.
The other side of treatment is prevetion and protection. That means people with Marfan Syndrome will have to adapt their lifestyle for example they will be encouraged not to participate in contact sports to avoid injuries of their fragile connective tissue or their blood vessels, or to avoid strenous activities to protect the heart.
by: Susan Meyer
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