Marfan Sydrome

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WHAT IS MARFAN SYNDROME?

Marfan syndrome is a chronic genetic illness with a significant impact on life and on family. It is transmitted to 50% of children of patients with Marfan syndrome and is caused by a mutation in the fibrillin-1 gene that controls connective tissue in the body. It is associated with physical problems involving a number of tissues including the aorta, the eyes and the skeleton.

Who has Marfan syndrome?

Around 1 in every 5,000 people have Marfan syndrome and every person with Marfan syndrome has a family where 50% of siblings have the disease. For Australia’s current population of 25 million people, there are approximately 5,000 people with Marfan syndrome. Males and females are equally affected.

Patients with Marfan syndrome suffer from physical and psychosocial issues throughout their life. At present there is no curative treatment. Medical and surgical approaches have improved survival rate but quality of life, economic stability, educational opportunities, anxiety, depression and lack of social support all remain as overwhelming challenges for a person with Marfan syndrome.

There is no affect on intelligence or intellectual function.

What are the signs of Marfan syndrome?

Since connective tissue is found throughout the body, Marfan syndrome can affect many parts of the body. Signs of the disorder are most often found in the:

 

  • Heart
  • Blood vessels, especially the aorta with aortic enlargement
  • Bones
  • Joints
  • Eyes
  • Lungs, skin and nervous system may also be affected

What are related disorders?

Disorders that are related to Marfan syndrome including Loeys-Dietz Syndrome, Ehlers-Danlos Syndrome, Familial Aortic Aneurysm and Acute Aortic Dissection.

These conditions can cause some of the same or similar physical problems as Marfan syndrome and also be serious conditions.

Treatment of Marfan syndrome

Treatment depends on making an accurate diagnosis and identifying whether a particular feature of Marfan syndrome is life-threatening or needs specific treatment. There is no curative treatment but surgical intervention may be available for those with aortic aneurysm of dislocation of the lenses.

Marfan Foundation Australia

Marfan Foundation Australia aims to make a difference to people with Marfan syndrome by supporting research in Australia to find a treatment.