Marfan Syndrome

The main function of this connective tissue is to hold the body parts together and to provide a sort of framework for growth and development. For a patient suffering from Marfan syndrome, the connective tissue will be defective and won't function properly. Since connective tissue is found throughout the human body, Marfan syndrome has the ability to affect several different systems at one go, including the eyes, the skeleton the nervous system, the skin, lungs and the heart and blood vessels.

Marfan syndrome is caused by a certain mutation or defect in the gene that is responsible for determining the structure of fibrillin, which is a protein that forms an important part of the connective tissue. A person born with Marfan syndrome may sometimes not even be aware of it, and in many cases this disorder has been diagnosed later in life. Although every person suffering from Marfan syndrome has a defect in the same genes, the actual mutation is specific to each family and not all victims experience the same characteristics and even if they do, not always to the same degree. This is known as variable expression, which means that the defective gene has different ways of expressing itself, varying from individual to individual. Scientists however, have not yet understood how and why variable expression occurs in patients of Marfan syndrome.

The defective gene can also be inherited. The child of someone suffering from Marfan syndrome has a 50 percent chance of getting the disease. Sometimes however, a new gene defect can occur during the formation of the egg cells or sperm cells, but if both the parents are unaffected, then the chances of the child developing the disease is only 1 in 10,000. it is possible that 25 percent of the cases are caused due to spontaneous mutation that is caused at some time during conception.

Symptoms of Marfan syndrome
Marfan syndrome has the ability to affect different people in different ways. While some people may only experience mild symptoms, others are sometimes more severely affected. In most cases, the symptoms tend to progress as the person ages. The body systems that get affected by Marfan syndrome are:

• The Eyes - More than half of all the people suffering from Marfan syndrome experience dislocation of either or both the lenses of the eye. The lens may either be slightly higher or could be lower than normal and at times can shift to one side. This dislocation may vary from being minimal to highly obvious and pronounced. Retinal detachment is another very serious complication of Marfan syndrome. Most people suffering from this disorder are also myopic or nearsighted and some even develop cataracts or glaucoma at very early ages.
• The skeleton - People with this disorder are characteristically very tall and lanky and loose jointed. Since this disease affects the long bones, the skeleton, legs, arms, toes and fingers may all be disproportionately long in comparison to the rest of the body. A person with Marfan syndrome will always have a long and narrow face and the roof of the mouth will most probably be arched causing the teeth to be crowded together. Other abnormalities in the skeleton include a protruding or indented sternum, flat feet and scoliosis or curvature of the spine.
• The Nervous System - The spinal cord and brain are surrounded by fluid, which is contained within a membrane called dura that is also composed of connective tissue. As people suffering from this disorder get older, this dura tends to weaken and stretch and will then weigh down on the vertebrae in the lower spine, wearing away the bone that surrounds the spinal cord. This condition is called dural ectasia. These changes may cause mild discomfort at times or could lead to radiating pain in the abdomen or even constant pain, weakness and numbness in the legs.
• The Heart and Blood Vessels - Most people with Marfan syndrome tend to have a variety of abnormalities associated with the heart and the blood vessels. Because of the defective connective, the walls of the aorta may sometimes get weakened and may even stretch. This process is called aortic dilatation. Aortic dilatation also increases the risk of the aorta tearing away or rupturing, and this causes severe heart problems or even sudden death. Sometimes, defects present in heart valves also cause serious problems. Valves that leak cause heart murmurs, which doctors can hear with stethoscopes. Larger leaks can cause fatigue, shortness of breath and heart palpitations.
• The Lungs - Abnormalities in the connective tissues tend to make the tiny air sacs present within the lungs less elastic. But in spite of this, people with the disorder don't generally notice any obvious problems. But if these tiny air sacs become swollen or stretched, the risk of the lung collapsing may increase. Very rarely do people with Marfan syndrome have any sleep-related breathing problems like sleep apnea or snoring.
• The Skin - People with this disorder tend to develop stretch marks all over their bodies, even without gaining or losing any weight. These stretch marks can occur at any age and are not seen as threats to the health of the person. However, people with this syndrome have increased chances of developing inguinal or abdominal hernia.

Being diagnosed with Marfan syndrome and then learning to live with this genetic disorder can cause serious emotional, social and financial stress. It takes a lot of adjustment in lifestyle and outlook in order to deal with it. An adult with Marfan syndrome will often feel afraid or angry. There may also be great concerns about passing on this genetic disorder to the future generation, and about its emotional, physical and financial implications.

The siblings and parents of a child suffering from Marfan syndrome may feel angry, sad and even guilty at times. It is very important for the parents to realize that they were not responsible for the mutation of the fibrillin gene. Most parents will have concerns about the genetic implications for any future children. In some cases, children with this disorder or often advised to restrict their physical activities. This takes a lot of adjustment in lifestyle that may sometimes be very hard for the child to understand and cope with.

For both, adults as well as children, appropriate medical attention, precise information and adequate social support are the keys to living and learning to live with the disease.