Marfan Syndrome Awareness Month

February is Marfan Syndrome Awareness Month

Marfan syndrome awareness month takes place each February. Marfan syndrome is a serious, potentially life-threatening condition, and an early, accurate diagnosis is essential for proper treatment and management. Red represents Marfan syndrome and Marfan syndrome awareness month. Wear a red enamel awareness pin, red fabric ribbon, or red silicone awareness wristband bracelet for Marfan syndrome awareness month.

Marfan syndrome is a genetic condition that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.

About 1 in 5,000 people have Marfan syndrome. This includes men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it. This  means they get the genetic mutation from a parent who has it. However, some people with Marfan syndrome are the first in their family to have it. This mutation is spontaneous. Further, there is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.

Connective Tissue and Marfan Syndrome

Because connective tissue is found throughout the body, Marfan syndrome affects many different parts of the body including the lungs, skin, and nervous system. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features, for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) can be life-threatening. Marfan syndrome, however, does not affect intelligence.

Features of this disorder are not always visible right away and symptoms can also vary in combination. According to The Marfan Foundation, it is important for people living with Marfan syndrome and related disorders to get accurate and early diagnosis and treatment. Lastly, people with Marfan are 250 times at greater risk of aortic dissection.

Visible signs of Marfan syndrome are long arms, legs and fingers, curved spine, flexible joints, flat feet, and crowded teeth. Other signs are harder to detect and require special tests.

People are born with Marfan syndrome but they may not notice any features until later in life and some of these features can appear at any age. Some people have many characteristics at birth or as young children. Other people develop aortic enlargement, as teens or even as adults. Some features are progressive, meaning they can get worse as people age.

All of this makes it very important for people with Marfan syndrome to have ongoing monitoring, especially for life-threatening aspects of the condition like aortic enlargement. An accurate and early diagnosis helps to ensure proper treatment. Some treatments can prevent symptoms from getting worse and ultimately save lives.

Awareness Month Activities

Awareness of Marfan syndrome and related conditions leads to early diagnosis, treatment, and an extended lifespan. Life is complicated.  And, when you or a loved one has a genetic or chronic condition, it can be even more challenging. Many internal and external factors influence our quality of life, including physical health, relationships with loved ones, financial issues, work environment, coping skills, and more. Learn more about Marfan syndrome to raise awareness. As a result of understanding, this leads to increased funding and research.