Marfan Syndrome: Rare, Life Threatening Condition

Many who have Marfan’s do not realize they have it.

Emma Blackwell, Editor-in-Chief

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This month of February is recognized as Marfan Awareness month, a rare and incurable genetic disorder which mainly affects a person’s connective tissue. Less than 200,000 people have this in America, but 1 in every 5,000 people in the world may have this syndrome. If not diagnosed at a young age, a person can significantly increase their risk of death or severe physical limitations as early as the age of thirty to forty.

Although most people inherit Marfan from their parents, the syndrome can also occur in a person whose family history never had Marfan’s. According to the Marfan Foundation, this syndrome is caused specifically by a spontaneous mutation of the gene that is in charge of making a protein called fibrillin-1. When this gene mutates, it no longer produces fibrillin-1, and instead creates an excess amount of another protein called TGF-β, or transforming growth factor beta. In turn, a person’s connective tissues are heavily impacted causing common physical features in Marfan patients such as lanky arms, long fingers, abnormal height, and nearsightedness. If left undiagnosed, such effects can lead to a higher risk of retinal detachment, early cataracts, scoliosis, and a bowed sternum.

In addition to outward physical appearances, Marfan syndrome also causes internal problems specifically with the heart. When the connective tissue is affected by TGF-β, it is significantly weakened, meaning it can no longer support inner body functions as well as it should.

The most dangerous of these functions is the heart because the aorta — the blood vessel which carries blood to all parts of the body — can either tear or dilate. When this occurs, a person risks the chance of a heart attack among other serious cardiovascular problems. In addition, Marfan patients can severely worsen their condition by drinking caffeine because it can lead to high blood pressure further stressing their heart’s connective tissues.

Kim Sammarco, science teacher and sponsor of West’s Medical Club, states, “The number one thing that’s likely to cause premature death is to put too much stress on your heart.” She notes that there are certain measures that can be taken to prevent this including “getting on beta blockers and keeping your blood pressure lower.” 

A clear indicator of having Marfan syndrome is the dilation of the aorta. A common method people use to identify such dilation is through the use of EKGs (electrocardiograms), a recently implemented screening requirement for young athletes in Illinois.

One of the main things EKGs are useful for is testing whether a person’s heart has been enlarged or if there are signs of arrhythmia — irregular paced heartbeats — or mitral valve prolapse — an abnormal backwards flow of blood in the heart’s left chambers. These signs are especially helpful when identifying Marfan’s in people who have no genetic history of Marfan syndrome. 

The easiest way for someone to know whether or not they should check for Marfan’s is if a parent is already diagnosed with it. Statistics show that around 75% of people affected by Marfan syndrome inherited the condition from their parents. Because Marfan’s is a dominant trait, meaning there is a 50% chance of inheritance, children who have one or both parents diagnosed with Marfan’s should be genetically tested.

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photo courtesy of www.ncbi.nih.gov

There are other physical tests that a person can do if they have no connection to Marfans in their lineage but suspect they may still have Marfans. One common test is using one hand to grasp the wrist of the opposite arm and seeing if the pinky finger overlaps with the thumb. This is a simple way to tell if a person has abnormally long fingers as often is the case for Marfan victims.

According to Glenbard West nurse, Mary Atwater, it is important for people to be more aware of Marfan syndrome because some people may not have a genetic history to refer to. However, she also states that Marfan’s is not a condition that someone should immediately think of when noticing things like lankiness or abnormal height.

Although the condition is rare, there are actually quite a few famous people who have either been diagnosed or speculated to have Marfan syndrome. Abraham Lincoln is a great example of this because of his long fingers and tall, lanky stature. Although never confirmed, most experts believe he may have had Marfan syndrome.

Likewise, Niccolò Paganini was a famous violinist who used his long fingers as a way to stretch the capabilities of a violinist’s bowing and fingering techniques. After speculating the cause of his premature death, historians’ most recent conclusion claims it was due to marfan syndrome as recorded by NCBI (The National Center for Biotechnology Information).

Just last year, NBA news announced that former basketball player, Isaiah Austin, returned to professional basketball after being forced to quit due to testing positive for Marfan’s in 2014 (a result of showing symptoms in a mandatory EKG). This is a huge risk for his health as physical activity can irritate and worsen the condition of his heart, however he claimed that his doctor was watching the condition carefully. Physical activity is highly discouraged for anyone with Marfan syndrome, most of them being told to immediately stop all physical activity at once due to the high risk.

As much as it is a rare syndrome, many who have Marfan’s do not realize they have it right away just like Isaiah Austin hadn’t realized. The sooner someone is diagnosed with Marfan’s syndrome, the more time they have to take preventive measures against the condition’s worst affects. If treated at an early stage, individuals can expect to live to around 70 or more years.

Nurse Atwater states, “Education is health prevention from not only Marfan’s, but from other diseases as well. Knowing your family health history is important for identification of symptoms as Marfan’s is not always obvious. Early recognition allows for treatment of potentially life threatening complications.”

If you or someone you know has Marfan syndrome or a related disorder, help raise awareness by following the Marfan Awareness Foundation on social media or by contributing a small donation to the cause. The current goal is to raise $20,000 according to the Foundation, and people have already been sending in their support. So be an advocate, help save lives, and make a difference for those with Marfan’s.

 

Fight for the cause, and make a donation HERE

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