Marfan Syndrome

Marfan Syndrome

A disease is defined by Merriam-Webster as "a condition of the living animal or plant body or of one of its parts that impairs normal functioning and is typically manifested by distinguishing signs and symptoms." Millions of people are affected by tens of thousands of diseases every year. Marfan syndrome is one of these diseases.

Marfan syndrome is named after a French doctor, Antoine Marfan. In 1896, he first observed the condition in a 5-year-old girl. Symptoms present in the girl included very long and thin limbs and digits, inadequate muscle development and growth, and curvature of the spine (also known as scoliosis). It is known today that Marfan syndrome affects the body's connective tissue. Connective tissue is present throughout the entire body, and composes many of the body's significant structures. As people with Marfan syndrome grow older, their connective tissue may weaken and stretch, leading to other complications. This means that much of the body is affected by Marfan syndrome, including the lungs, skin, nervous system, heart and blood vessels, eyes, bones, and joints.

Because Marfan Syndrome affects many parts of the entire body, there are many different symptoms. The degree of severity of symptoms varies from case to case. This is due to variable expression. This means that genes express themselves differently in different people.

People with Marfan Syndrome are usually tall and skinny with long limbs and digits. have an armspan that is often longer than that of the person's height. The medical term for this condition is arachnodactylyl. People affected by Marfan syndrome often have very flexible joints, a very thin and long face, scoliosis, and either an inverted chest or an abnormally protruding chest. Poor vision is also very common among those with Marfan syndrome. Cataracts are common and heart problems are common for affected individuals as well. These heart problems can cause breathing complications and heartbeat abnormalities. Problems in the aorta can eventually lead to a deadly aneurysm and aortic dissection.

Anyone can contract Marfan syndrome, although only at birth, because it is neither race specific, nor gender specific. In the United States alone, it is estimated that 1 out of every 5,000 people is born with the disease. Marfan syndrome is caused by a gene mutation. This mutation causes the production of the protein "fibrillin-1" to be abnormally altered. Fibrillin-1 plays a big role in the formation of connective tissue. Connective tissue is formed by fibers that strengthen the tissue. These fibers are made up of microfibrils. FIbrillin-1 is a protein that attaches to other proteins and molecules to form the microfibrils. Therefore, the connective tissue may be weakened due to the lesser quantities and strength of fibrillin-1 in a person with this particular gene