What Is Marfan Syndrome? Symptoms, Diagnosis, and Care Options

Your body is constructed on a very extraordinary framework–a structure that binds everything in your body, such as your bones and muscles, as well as your heart and blood vessels. The connective tissues are the invisible strings that provide your body with strength, elasticity and structure and hold on to this framework.

We do not often think about it–until something begins to go wrong. Imagine if the very supportive tissues were weak or stretched.

This is exactly what happens when a person is affected with Marfan syndrome, a hereditary disease which silently takes over the connective tissues of the body.

Although it does not always reveal immediate or obvious symptoms, its consequences can be devastating, particularly when it is the heart, eyes and skeletal system that is affected.

The earlier diagnosis and the appropriate Marfan syndrome treatment can considerably help in the management of the effects and the quality of life.

What Is Marfan Syndrome?

Marfan syndrome is a genetic disease which interferes with the connective tissue as a result of a mutation in the FBN1 gene which encodes fibrillin- a protein that is vital in strengthening and elasticity of tissues.

Due to the presence of connective tissue in all parts of the body, Marfan syndrome may result in various systems, which include:

• The heart and blood vessels (cardiovascular)
• The bones and joints make up the skeletal system.
• The eyes

The intensity of the issue may be diverse. There are those that can have mild symptoms, and others can have life-threatening complications when they have not been diagnosed and treated in time.

Common Symptoms of Marfan Syndrome

The problem with diagnosing Marfan syndrome is that it may present differently in every individual. Nevertheless, the common signs are:

• Skeletal Symptoms
• Tall and slender build
• Long arms, legs, fingers, toes (tend to be out of proportion between the body and the limbs)
• Curved spine (scoliosis)
• Aboriginal of the chest (recessed or bulging chest)
• Flexible joints
• Eye Problems
• Blurred vision
• Lens dislocation (a major diagnosis of Marfan syndrome)
• Nearsightedness (myopia)
• Heart valve problems

This is the most serious aspect of the condition:

• Enlargement of the aorta (aortic dilation)
• Risk of aortic aneurysm or rupture

These complications may turn out to be life threatening unless they are closely monitored hence early intervention by treating Marfan syndrome is necessary.

What Causes Marfan Syndrome?

Marfan syndrome is a genetic mutation that is normally inherited by one parent. When one of the parents is a carrier of the condition then there is a 50 percent chance that it will be transferred to the child.

In other instances, the mutation might be spontaneous, i.e. there might be no history of the condition in the family.

How Is Marfan Syndrome Diagnosed?

Marfan syndrome cannot be diagnosed by a single test and thus, the diagnosis requires a thorough evaluation. The combination of: is usually used by doctors.

1. Physical Examination

• Evaluation of body percentages.
• Examining skeletal deformities.

2. Imaging Tests

• Echocardiogram to investigate the heart and aorta.
• Detailed imaging MRI or CT.

3. Eye Examination

• Special checkups to identify the dislocation of the lens or any other type of vision problem.

4. Genetic Testing

• Determines mutations in FBN1 gene.

Early diagnosis is important in the planning of proper Marfan syndrome treatment and avoiding complications.

Advanced Care and Support in Delhi

The availability of the appropriate healthcare facility is a significant factor in the management of more complicated diseases such as Marfan syndrome. Oncoplus is a facility that provides high-quality infrastructure, highly qualified experts, and a patient focus.

In case of complications or when expert intervention is required, the hospital also offers integrated care along with advanced cancer treatment in Delhi and for this, the patient is guaranteed of the one roof solution to his/her problems.