Marfan Syndrome

The cover of 'Rare Disease Series #6 MARFAN SYNDROME'

About Marfan Syndrome

Marfan syndrome related FBN1 gene is located on the chromosome 15.
Marfan syndrome is a rare genetic disease that affects the connective tissue in our body, affecting organs and normal body growth. Defected FBN1 gene causes the syndrome by reducing the amount of functional fibrillin-1 protein necessary for connective tissues.

Prevalence / Onset

Marfan syndrome affects about 1 in 5,000 people globally.

Prevalence

About 1 in 5,000 people have Marfan syndrome worldwide.

Onset

The symptoms of Marfan syndrome become apparent anywhere between infancy and adulthood.

Symptoms

Nine symptoms: Long arms, legs and fingers, Tall and thin body type, Curved spine, Chest sinks in or sticks out, Flexible joints, Aortic dilatation, Flat feet, Crowded teeth, Stretch marks on the skin (not related to weight gain or loss)

Inheritance Pattern

A family tree showing the autosomal dominant inheritance pattern of Marfan syndrome
Marfan syndrome is inherited in an autosomal dominant pattern.

In the opposite case, where the mother is affected and the father is not, the proportion of affected children remains the same.

Diagnosis

Diagnosing Marfan syndrome is difficult for two reasons:

  • There are many connective tissue disorders with similar symptoms
  • Symptoms vary, and are not consistent between patients

In most cases, a thorough physical examination and family history checkup can help diagnoses. A genetic test is widely used to confirm the diagnosis.

Treatments

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  2. As Marfan syndrome affects muscles throughout the body, treatments target various organs and systems.

Beta-blockers are used to prevent possible heart problems by lowering blood pressure.

Glasses or contact lenses can correct your visions caused from dislocated eye lenses.

An aortic repair can be necessary if the aorta’s diameter enlarges close to 2 inches. Scoliosis treatments like bracing and surgery can be necessary if the scoliosis is too significant.

Living with MARFAN SYNDROME

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  2. As Marfan syndrome can not be cured, you need to focus on reducing the risk of getting complications.

Avoid Intense Activities
Intensive activities such as weightlifting or contact sports can increase blood pressure, imposing extra burden to the aorta. Consult with your doctor and see if certain exercises (or activities) are right for you.

Provide Support
For adolescents, appearance has a significant psychological impact. Contact lenses, orthosis for scoliosis, and dental work for teeth can help.

Helpful Communities for Marfan Syndrome