Do You Know the Signs of Marfan Syndrome? 50% of People with this Potentially Fatal Disease Don’t.

Some people with Marfan syndrome look the part. They may be unusually flexible, with long arms, legs, and fingers, and a tall, willowy build. Some patients have scoliosis, crowded teeth, a protruding breastbone, dislocated lenses in one or both eyes. Many other patients have no visible symptoms at all, or don’t recognize the traits as symptoms.

Marfan syndrome is a rare, inherited disorder which affects connective tissue. It can affect various systems in the body: the heart, blood vessels, eyes, and skeleton. It’s diagnosed when two of the three biggest organ systems are impaired. To learn more about this rare disease, click here.

While some people with Marfan syndrome go their whole life without experiencing any major health problems, many others are at risk for potentially fatal complications.

The most dangerous symptom is an enlarged aorta, which is the primary blood vessel leaving the heart. As the aorta grows bigger, the tissue stretches and thins. If it grows too weak, it can rupture. Eight out of ten people will not survive an aortic rupture.

This doesn’t have to happen. Fatal complications can be prevented, or at least, the risk can be diminished. If the disease is recognized early on, a doctor can diagnose it through symptoms, family history, and a genetic test. The doctor will periodically monitor a patient’s heart through an echocardiogram, and take note if anything starts to change. There are various treatments available to help alleviate existing symptoms and prevent future ones. Beta blockers are popular, since they lower blood pressure, reducing the aorta’s work. If a doctor sees the aorta is changing too quickly, they may recommend surgery– replacing the aorta with a Dacron graft helps high risk patients live longer.

Effective treatment is available– but only if it’s caught in time.

Even though approxiamtely 18,000 people in the UK, and 200,000 people in the US have Marfan syndrome, it’s estimated that only half of those people realize they have the condition. The visible symptoms are so vague, varied, and often, seemingly benign. A person with Marfan syndrome can go years and years without realizing the stress that their heart is facing.

It’s especially important to know if you have Marfan syndrome if you are pregnant, or are considering pregnancy. It will help catch the condition early on in a child– a parent with Marfan syndrome has a 50% chance of passing it on to any given child. Additionally, it will let you make an informed decision about whether you want a natural birth or C-section– pregnancy, and especially childbirth, are very tough on a mother’s heart.

The good news is that the expected lifespan of a Marfan syndrome patient is on its way up. This is largely because more people are being diagnosed, and receiving treatment at the right time. The most important thing you can do is know the signs to look for, and spread awareness. Recognizing the quiet, but deadly symptoms of this disease could save a life.

Read more about this in The Hippocratic Post.

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