Marfan Syndrome is a genetic disease in which the connective tisues in the body are abnormal. Marfan Syndrome mutates the gene that controls how the body makes fibrillin. about 1 in every 5,000 people in the U.S. have it and 1 on every 10,000 people in the world have it. Men women and children of all races can have the disease.



Causes

Marfan syndrome is caused by defeat or mutation in the gene which translated the human body to make fibrillin-1. Its a protein that is a part of connective tissue. The defeact is an increase inside a protien named Transterming Growth Factor Beta or TGFB. People usually get it from their parents who had the disorder.

Interesting Facts

  • Abraham Lincoln had marfan syndrome.
  • Pulling out a tooth of someone tht has the disease can kill them.
  • There is no cure.
  • Marfan syndrome was first described in 1896 by a french pediatrition Antoine Marfan

Signs and Symptoms


Skeleton:

People with Marfan syndrome are usually very tall and loose jointed. Since Marfan Syndrome affects the long bones of the body the arms, legs, fingers, and toes are usually disproptionally long to the rest of the body.

Eyes:

People with the disease will usually have dislocation in one or bothe the eyes. They will also be nearsighted and have cataracts.

Heart and blood vessels (cardiovascular system):

The faulty connective tissue can cause the aorta to weaken and stretch, this process is known as aortic dilatation. The defects in the heart valves can cause certian valves to leak creating a heart murmur, a doctor can hear this through a stethoscope.

Nervous system:

The brain and the spinal cord are surrounded by dura, dura is a fluid contained by membrane and is composed of connective tissue. As they get older the dura will begin to weaken and stretch, it will also weigh down the vertebrae and wear away the bones surrounding the spinal cord.

Skin:

People will begint to develop stretch marks on their skin although they haven't had any changes in weight.

Lungs:

The lungs are the less affected, however the tiny air sacs in the lungs will become less elasticand the risk of lung collapse wil increase.

Treatments:

For cardiovascular system there are only two treatments, which are Beta-blockers and Calcium-blockers. The first one Beta-Blockers lower blood pressure plus it reduces the force of heartbeats and this is the first choice of treatment people use fpr cardiovascular system. The second Calcium-blockers does the same as Beta-blocers but it is also use for depresion, aothma, or side effects from the Beta-blockers.

For your lungs you shouldn't smoke because this hightens your risk for lung damage. For your eyes you should start wearing glasses or contact lines if tou start having promblems with your vision[surgey may be nessary]. As for your bones and skelton if you begin to see signs of marfan syndrome your doctor might give you orthopedic brace or you may have to get surgery.for your nervous system if you get dural ectasia which is the swelling of the spinal cord then tour doctor may give you some medication that will shorten tou pain in that area. There is no real treatment for Marfan syomedrome it self.

Citations:

Web. 02 Mar. 2012. <http://www.marfan.com/marfan/2415/Treatment/>.

"What Is Marfan Syndrome?" - NHLBI, NIH. Web. 02 Mar. 2012. http://www.nhlbi.nih.gov/health/health-topics/topics/mar/.

"10 Interesting Facts - Marfan Syndrome." Moved Temporarily. Web. 02 Mar. 2012. http://sites.google.com/site/marfansyndrome302/home/10-interesting-facts.

"Symptoms of Marfan Syndrome." Genetics Home Page. Web. 02 Mar. 2012. <http://genetics.emedtv.com/marfan-syndrome/symptoms-of-marfan-syndrome-p2.html>.W