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Marfan Syndrome: How to Tackle the Problem?

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Marfan Syndrome: How to Tackle the Problem?

Orthopedics & Joint Replacement | by Dr. Ananda Mandal | Published on 19/12/2022



Overview:

Marfan syndrome is an umbrella term for genetic disorders related to connective tissues. Although Marfan syndrome is rare, it can affect 1 in 5000 people and also cause potentially life-threatening conditions which are mostly associated with heart problems. It is only after a comprehensive analysis and diagnostic tests, we can distinguish Marfan syndrome from other medical conditions. This blog contains information about Marfan syndrome and how we can tackle the problem. 

 

What Is Marfan Syndrome?

Marfan syndrome is a result of a genetic mutation which leads to connective tissue disorder. Connective tissues are the fibres that support and connect the organs across the human body. Hence, the disease most commonly targets the skeleton, heart, eyes, blood vessels, and lungs. But since connective tissues are found across the body, Marfan syndrome can affect multiple systems. 

The appearance of people with Marfan syndrome is usually thin and tall. They also have unusually long arms, legs, fingers and toes. The condition can appear to be mild or severe depending on the degree of genetic mutation. Additionally, if the disease affects large blood vessels (which carry blood from the heart to the rest of the body) it can become life-threatening.

 

What Causes Marfan Syndrome?

In medical terminology, the mutation in the FBN1 gene causes Marfan syndrome. Let us simplify it a bit. Our body tissues are made of a microfibril which is a strong ropelike structure. Microfibrils provide tissue integrity and form connective tissues in the body. The main component of this microfibril is a protein called fibrillin (FBN1 gene). 

Most people with Marfan syndrome usually inherit abnormal genes from their parents, which is one of the primary reasons. Along with that, Marfan syndrome causes also include risk factors like certain lifestyles, diet, sports activity, etc. which may not directly impact the connective tissues but may increase the risk of other health conditions in later stages of life. 

 

Early Signs and Symptoms of Marfan Syndrome

Marfan syndrome symptoms can vary greatly. Since the disease impacts different areas of the body, some people may only experience mild effects. On the other hand, Marfan syndrome symptoms can also lead to health conditions which can eventually become apparent. Also, confusing Marfan syndrome features with other tissue disorders can lead to life-threatening complications. Health problems associated with Marfan syndrome include -

  • Weakening or Bulging Aorta
  • Fatigued
  • Scoliosis
  • Extreme nearsightedness
  • Easy Bruising
  • Issues related to the Lung
  • Pain in the Lower Back
  • Dural Ectasia
  • High chances of Attention Deficit Hyperactivity Disorder (ADHD)

 

Additionally, Marfan Syndrome features include the following - 

  • Tall and Slender body
  • Disproportionately long arms, legs and fingers
  • Protruding or Intruding Breastbone 
  • Highly arched palate and crowded teeth
  • Abnormally curved spine
  • Flat Feet

 

How To Know If You Have Marfan Syndrome?

It is usually challenging for people to exactly know if they have Marfan syndrome or not. Even for doctors, it is not a piece of cake, even with Marfan syndrome features. Even among the family members, Marfan syndrome signs can vary significantly. Therefore, the doctor will usually ask about your family history and check your medical report for a thorough examination. 

 

Furthermore, there may be some tests which can help confirm the Marfan syndrome and pinpoint the area of impact. Diagnostic tests for Marfan syndrome include the following - 

 

 

  • Heart Tests - The doctor usually recommends an echocardiogram to capture real-time images of the heart and check the condition of the heart valve and the size of the aorta. The doctor leverages computerized tomography (CT) scans and magnetic resonance imaging (MRI) to monitor the size and health of the heart. 

 

  • Eye Tests - Since Marfan syndrome affects the eyes, the doctor checks for lens dislocation, cataracts or a detached retina. Before the diagnosis, the doctor dilates the eye using numbing drops. Further, the doctor may measure the pressure inside the eyeball to check for glaucoma. There are two types of eye tests for Marfan Syndrome diagnosis - 
    • Slit Lamp Exam
    • Eye Pressure Test

 

  • Genetic Testing - Genetic testing is done to confirm the mutation in the genes. If an individual with Marfan syndrome is willing to plan a family, genetic testing can indicate the chances of passing Marfan Syndrome to the offspring. 

 

What Is The Treatment For Marfan Syndrome?

Marfan Syndrome has no cure since it is autosomal dominant which means it needs a single mutated copy of the gene to cause the disease. Therefore, the treatment focuses on preventing the disease from progressing further. If you are suffering from the condition, regular checkups can decrease the risk of complications and help you increase your quality of life. 

 

For mild to moderate symptoms, the doctor may recommend medications and therapies. Certain medicines can lower blood pressure and help prevent the aorta from enlarging. As a result, medicines reduce the risk of dissection and rupture. In addition, certain vision problems due to dislocated eye lenses can be corrected with glasses or contact lenses. 

The doctors may also recommend surgical options for effective treatment depending on the signs and symptoms of Marfan syndrome. Surgical procedures include - 

  • Aortic Repair
  • Scoliosis Treatment
  • Breastbone Corrections
  • Eye Surgeries

 

What Are The Effects Of Marfan Syndrome?

Marfan syndrome has numerous effects on our body since the disease targets connective tissues. Most children and even adults are unaware of the Marfan syndrome symptoms and the impact they can have on their daily lives. Hence prolonging the treatment can increase the risk of several complications like - 

  • Skeletal Complications
  • Complications related to Pregnancy
  • Cardiovascular Complications
    • Valve Malformations
    • Aortic dissection
    • Aortic Aneurysm
  • Eye Complications
    • Retinal Problems
    • Early-onset Glaucoma/Cataracts
    • Lens Dislocation

 

Conclusion:

Genetic disorders hinder the natural lifestyle of both adults and children. For most adults, it becomes extremely difficult to carry on with their careers, relationships, etc. Along with that, there is pressure of passing the defective gene to their children. 

However, working together with parents and medical experts, we can provide emotional support for both children and adults and offer practical solutions for a better quality of life. Providing a friendly environment for children in school and at home can really boost their confidence and help them cope with the condition. Remember, there may not be a cure but there is always a solution.