Marfan syndrome is a disease that affects the body’s connective tissue which is in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels and heart valves. Since connective tissue is in so many places a person with Marfan’s can be affected different parts of the body. Connective tissue is also important in how the body grows and how the body develops properly. Most commonly a person with Marfan syndrome will have problems with the heart, eyes, and skeleton.
People with Marfan’s are usually very tall and thin. Their arm span exceeds there body height and their toes and fingers are elongated. Other features a person with Marfan’s can possibly have are having a long and narrow face, crowded teeth and a curvature off the spine. Sunken chest or a chest that sticks out could also be present. Any of the features can become noticed during on an individual at any point in one’s life. Marfan syndrome affects about 1 in 5,000 worldwide. It is an inherited so the biggest risk factor is having a parent with the disorder. There is a 50% chance of passing the disorder on to one of your children if you have Marfan’s. It can affect men a women of all races.
With Marfan syndrome some may experience only mild symptoms, but others can be life threatening. Complications in the heart are the most serious. Aortic aneurysm which is when the pressure of blood leaving your heart can cause the wall of your aortic root to bulge out. That is compared to being like a weak spot in a tire. Another heart complication with the heart is valve malformations which the heart valves are not formed correctly and causes to heart to work harder to make to compensate. That can eventually lead to heart failure. Women who are pregnant and have the disease are at risk. During pregnancy the heart naturally is pumping more blood than usual and that can lead to a ruptured heart.
Lens dislocation can happen and occurs with more than half of the people with the disease. Focusing lens moves out of place if the supporting structure weakens. Retinal problems also occur then the retina is torn or detached. Lower back pain is common because of the abnormal curves in the spine. That can also have complications in rib development.
There is no cure for Marfan syndrome, but close monitoring and treatments can put off complications if started early. Glasses are usually treated for eye complications. Those with skeletal problems are sometimes given a back brace for the back pain or if really severe surgery may be required to straighten the spine. Medicines like beta blockers and ACE inhibitors are used to slow the heart down and use less force so it does not rupture, but again if really severe surgery is done on the heart.
Individuals with Marfan syndrome can enjoy life due to medical advances. Avoiding competitive sports and strenuous activity is still advised because of the heart. Exercise and activity is still important for everyone. Walking, golf, and bowling are safer alternatives. Smoking is obviously not advised due to the increased risk for lung problems and the long term harmful effects in general.
Emotional health is also very important. Anxiety, fear and stress is possible when one has Marfan syndrome. Having support from friends and family is important. Talking with a counselor can help one cope with these feelings. Support groups are also available to know you are not alone and be given support on how to live day to day life.