Marfan Syndrome: An Introduction to a Possibly Fatal Genetic Disease

heart check-up

Story at-a-glance -

  • Marfan syndrome is a disease that was discovered by Dr. Antoine Marfan, a French pediatrician. In 1896, he published his findings in the Bulletin of the Medical Society of Paris
  • In the United States, Marfan syndrome affects only 1 out of 5,000 people, making it a very uncommon disease. As a result, most people don’t have a clear idea of what it looks like or how it affects a person

Humans pass on their genes to their offspring, ensuring the survival of the species. As children grow older, certain traits from these inherited genes begin to manifest.1 However, some people have the misfortune of receiving faulty genes, causing physical problems as they age. One little-known disease, Marfan syndrome, falls under this category.

Marfan syndrome is a disease that was discovered by Dr. Antoine Marfan, a French pediatrician. In 1896, he published his findings in the Bulletin of the Medical Society of Paris. In it, he described a 5-year old girl who had arachnodactyly, a condition marked by long limbs and long, slender fingers. Since then, physicians have named the disease after Marfan because his diagnosis was seen in other patients. However, it took a long time before the medical community was able to provide proper treatment.2, 3

Thanks to recent advances in technology, doctors have been able to figure out the cause of the disease, which is a defect in the FBN1 gene.4 Sadly, many people do not have an idea what the disease is about, how to detect it or what should be done once symptoms appear.

Commonly Misunderstood Myths About Marfan Syndrome

In the United States, Marfan syndrome affects only 1 out of 5,000 people, making it a very uncommon disease. As a result, most people don't have a clear idea of what it looks like or how it affects a person. Here are some commonly misinterpreted concepts about Marfan syndrome:5

  • You need to have severe deformities before it is classified as Marfan syndrome: While it's true that Marfan syndrome may cause deformities that are readily apparent, not everyone develops these types of symptoms. Some are hidden inside, such as heart problems.
  • You have to be very tall to be diagnosed with Marfan syndrome: Some people with Marfan syndrome have above-average height, but this is not the same for all who are affected.
  • Marfan syndrome affects the heart only: In most cases of the disease, the heart and its surrounding valves are affected. However, it may also affect your eyes, bones, joints and lungs.
  • Those who have the disease believe physical therapy is painful: On the contrary, the goal of therapy is to minimize the pain you're experiencing so that you can go about your daily life. The therapist will also help you understand the underlying source of your discomfort so you can make proper adjustments.6
  • People affected with Marfan syndrome have a certain "look:" Unlike certain diseases that create a particular appearance, Marfan syndrome does not produce a distinguishable "appearance" for those who have it. Its symptoms vary wildly and the disease is only identified through accurate diagnosis.

Educate Yourself About Marfan Syndrome With This Guide

Due to the rarity of this disease, it's important to educate yourself using this guide because you may not know that you or a loved one has it. To complicate things further, its symptoms vary greatly from person to person, making diagnosis difficult. The following articles can help you shed light on how the disease affects the human body, its most important indicators and how you can manage the disease before you endanger your health further.

MORE ABOUT MARFAN SYNDROME

Marfan Syndrome: Introduction

What Is Marfan Syndrome?

Marfan Syndrome Symptoms

Marfan Syndrome Causes

Marfan Syndrome Treatment

Marfan Syndrome Prevention

Marfan Syndrome Diet

Marfan Syndrome FAQ


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What Is Marfan Syndrome?

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