It is believed that 1 in every 5000 people have Marfan's Syndrome and it effects all men, women, and children of all races. This disease is caused by a mutation in a gene that affects connective tissue. The connective tissue, that can be found surrounding almost all of the major structures in your body, becomes dysfunctional. Marfan's Syndrome usually effects almost every organ system in the body, and a few of the problems associated could be deadly.
Diagnosis
Although scientists know what gene is mutated, it is takes many trained specialists to test a person for the disease. First, the person must tell a genealogist if anyone in their family currently has the disease or if there is a history of unexplained heart-related problems. Then, they have to see and orthopedist to find the ratio between the size of their limbs (arms and legs) to their torso. After that, this person must see a ophthalmologist to get an eye examination. Finally, the person must visit a cardiologist, where their aorta and heart valves will be studied and examined.
Signs and Symptoms
Many people experiencing Marfan's Syndrome have many of the signs and symptoms that follow. The most dangerous of the signs and symptoms involve the cardiovascular system. Many times the valves in the heart don't work properly which can cause breathlessness, irregular heartbeat, or fatigue. A doctor can easily detect this by hearing a sound that is called a heart murmur through a stethoscope. Another sign of Marfan's Syndrome is stretch marks on the skin (not caused from pregnancy or obesity). Another sign is detachment of the lens in one or both of the eyes. This can cause them to be nearsighted and/or have blurred vision. There are also many signs that a person has Marfan's Syndrome in the skeletal system. Most people with Marfan's Syndrome are very tall and their arms, fingers, legs, feet, and toes are disproportional to the rest of their body.
Problems that Arise
There are many problems that can arise for a person with Marfan's Syndrome. First, and on of the least severe of the problems, is that many people with MFS have crowded teeth due to the roof of their mouth being curved. Second, the connective tissue surrounding the brain and spinal cord, called dura, may become stretched and weigh down on the spinal cord, causing bone loss. Third, a person with Marfan's may have scoliosis, a protruding or indented sternum, and/or flat feet. Next, a person with MFS may have many respiratory problems. The mutated gene causes the connective tissue surrounding the be defective which could lead to the lungs collapsing without any trauma to the area, emphysema without a history of smoking, snoring, and the stopping of breathing while sleeping. Emphysema is where the size of the air pockets in the lungs are increased causing labored breathing and a great chance for infection. Another problem that occurs in many people experiencing MFS is a hernia. These hernias appear in the groin or abdomen area and contain intestine. There are also many problems that can be experienced with the eyes. Many people are nearsighted, lose the clearness in their lens, and experience what is called glaucoma, or high pressure within the eye. Finally, and most deadly, people with MFS may have cardiovascular problems. One problem that can occur is leakage of the valves in the heart, also called a heart murmur. Although the may do nothing, it could also cause shortness of breath, palpations, and fatigue. Clearly most deadly, the wall of the aorta may be stretched and weak due to the connective tissue surrounding it. This could cause the aorta to rupture, which will either result in extremely serious heart problems, or even instant death.
Treatment
Sadly, there is no current cure for people with Marfan's Syndrome, but there are treatments to help. There is a medication that many people suffering from Marfan's Syndrome take. This medication helps to slow the stretching of the aorta, and it prolongs surgery on the aorta. This is another treatment for the faulty connective tissue. In aortic aneurysm repair (the most common surgery on the heart for the treatment Marfan's Syndrome) they replace the enlarged part of your aorta with a mechanical valve. You may also have your valve repaired. The difference between repair and replacement is as follows. If your aorta is repaired, you may have to have another surgery later in life, but if you have you aorta replaced, chances are you won't have to have another surgery, but you will have to take blood thinner for the rest of your life. One final thing a person with MFS is decreasing the amount of vigorous exercise they do and avoid contact sports. With many doctors currently working on the cure for Marfan's Syndrome, I am sure that someday in the near future there will be a cure for MFS.
