Marfan Syndrome

Block 3

The cause of Marfan syndrome:

Marfan syndrome is a genetic disorder that is caused by a mutation in the gene that controls how the body uses/distributes fibrillin. Marfan syndrome causes fibrillin production in the body to decrease.

-Fibrillin is a protein that is an important part of the connective tissues in the body. Connective tissues support the organs, blood vessels, bones, muscles, and joints.

Marfan syndrome weakens the connective tissue.

People with Marfan syndrome inherit it from their parents, meaning they are born with the disorder, although they are more likely to be diagnosed with it later on in their life.

Symptoms

-people with Marfan syndrome may have long arms, fingers, or legs

-a tall and thin body type

-curved spine

-chest sinks in or sticks out abnormally

-flexible joints

-flat feet

-crowded teeth

-stretch marks on the skin that are not from weight gain or weight loss

- arm span is longer than height

-large aorta artery

-nearsighted

What is happening in the body to cause these symptoms

The "longer" bones in the body grow more than they should due to fibrillin not being produced normally.

When fibrillin is not produced enough, it causes the connective tissue to be weaker than a normal, healthy body, which can cause eye problems, heart problems, and weak joints.

Treatment/cures

There is not an absolute cure for Marfan Syndrome but there are treatments for many of the symptoms.

People with Marfan syndrome often did not live past 40 years old when Marfan syndrome was first becoming a problem brought to the attention of scientists, but now with certain treatments for some of the symptoms their life span has been prolonged to an average life span.

Some ways to treat or manage Marfan syndrome is keeping your blood pressure low, glasses or contact lenses (for impaired/nearsighted eye vision), and surgery, which is normally performed on the aorta (largest artery in the heart), and sometimes often on their spines to correct the scoliosis that can be caused by Marfan syndrome.

Interesting fact

Pulling a tooth from a person with Marfan syndrome can kill them due to infection that can set in. People with Marian syndrome are often given antibiotics and instructed to brush their teeth and report possible cavities or problems in the gum due to possible infection.
Big image
Big image