What Causes Marfan Syndrome?

Marfan syndrome

Story at-a-glance -

  • According to the Genetics Home Reference by the U.S. National Library of Medicine, there are 1,300 possible mutations to the FBN1 gene that may lead to Marfan syndrome
  • The single highest risk factor for possibly developing Marfan syndrome is when your family has a history of the condition. If one of your parents has it, there’s a 50 percent chance that you may inherit it and the symptoms may appear later in life

Marfan syndrome is directly caused by a defect in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. This substance is then transported out of cells into the extracellular matrix where other fibrillin-1 molecules attach to one another and to other proteins to form threadlike filaments called microfibils.1

In turn, microfibils form the foundation of elastic fibers, allowing organs such as the skin, ligaments and blood vessels to stretch while you move your body. Microfibils also provide support to other areas such as the bones and tissues in the nerves, muscles and lenses of the eyes.2

According to the Genetics Home Reference by the U.S. National Library of Medicine, there are 1,300 possible mutations to the FBN1 gene that may lead to Marfan syndrome. As a result, the fibrillin-1 in your body has an altered structure or its transportation throughout your system is impaired, leading to the symptoms commonly associated with Marfan syndrome.3

Your Family's Medical History Is a Major Risk Factor of Marfan Syndrome

The single highest risk factor for possibly developing Marfan syndrome is when your family has a history of the condition. If one of your parents has it, there's a 50 percent chance that you may inherit it and the symptoms may appear later in life.4 This is also called an autosomal dominant pattern, which means that one copy of the altered gene from either of your parents is enough to cause the disease.5

However, in some cases, family history is not a requirement at all. Statistics indicate that 25 percent of diagnosed cases of Marfan syndrome result from a new mutation in the FBN1 gene. This means that even if your family does not have a history of the disease, the defect may spontaneously occur during your embryonic development.6

Diagnostic Methods Used for Marfan Syndrome

According to the Mayo Clinic, diagnosing Marfan syndrome can be quite difficult because many other connective tissue disorders can cause the same symptoms. Even then, the indicators of Marfan syndrome vary, complicating the matter further. In light of this, a variety of tests are used to complement each other's results in order to properly diagnose the disease. Here are some of the most employed methods:7

  • Heart tests: A variety of cardiovascular tests may be applied to see if the connective tissues in your heart are affected. An echocardiogram is typically the first exam to be administered, but a computerized tomography (CT) and magnetic resonance imaging (MRI) may also be used.
  • Eye tests: A doctor may recommend a slit-lamp exam to check for possible lens dislocation, cataracts or a detached retina, which are common ocular complications caused by Marfan syndrome. An eye pressure test may also be performed to check for signs of early glaucoma.
  • Genetic tests: Several genetic tests may be administered to confirm the possibility of Marfan syndrome. A genetic counselor may also help you with your concerns if you're wondering about passing the disease onto your future children.

Although a Single Gene Is Affected, the Outcome Is Different for Each Person Affected

While scientists have been able to figure out what gene is altered by Marfan syndrome, it's still hard to predict which part of your body will be affected. Each person who has the disease will have different sets of symptoms, a phenomenon also known as variable expression. Unfortunately, the technology today still can't solve why this occurs.8 The best thing these people can do to protect their health is to get professional help immediately once symptoms appear.

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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