What is Marfan Syndrome?
Marfan syndrome is a disorder of the body’s connective tissues. Children usually inherit it from one of their parents. Connective tissue helps maintain the body’s structure and provides support to other tissue and organs.
Some people are only mildly affected by Marfan syndrome, while others develop more serious symptoms. Typical characteristics of Marfan syndrome include:
- being tall
- abnormally long and slender limbs, fingers and toes (arachnodactyly)
- heart defects
- lens dislocation – where the lens of the eye falls into an abnormal position
Short Introductory Video to Marfan Syndrome:
What causes Marfan syndrome?
Marfan syndrome is hereditary, which means that it is passed to a child from their affected parent. There is a one in two chance that someone with Marfan syndrome will have a child who also has the syndrome.
A person with Marfan syndrome does not have enough of a protein called fibrillin in their connective tissue. This results in parts of their body being able to stretch abnormally when placed under any kind of stress.
The defective fibrillin gene also causes some bones to grow longer than they should. So someone with Marfan syndrome may be tall because their arms and legs grow longer than normal.
Diagnosing Marfan syndrome
If can be difficult to diagnose Marfan syndrome because the symptoms can vary significantly from person to person.
As the symptoms of Marfan syndrome do not always develop during childhood, the condition may not be identified until the teenage years.
A genetic test can be used to definitively confirm Marfan syndrome by closely studying the affected gene. However, because the gene can mutate (change) in over 1,000 different ways, it is a very time-consuming and expensive process.
Therefore, in most cases, a diagnosis of Marfan syndrome will be based on a thorough physical examination and a detailed assessment of a person’s medical and family history.
Treating Marfan syndrome
There is no cure for Marfan syndrome, so treatment focuses on managing the symptoms and reducing the risk of complications.
As Marfan syndrome affects several different parts of the body, treatment involves a number of healthcare professionals working together as a team. Your condition will be closely monitored and treated when complications occur.
The life expectancy of someone with Marfan syndrome may be reduced if the heart and aorta (the body’s main artery) are significantly affected.
How common is Marfan syndrome?
Although Marfan syndrome is rare, affecting about 1 in 5,000 people, it is one of the most common connective tissue disorders.
Both men and women are equally affected by Marfan syndrome. In around three-quarters of cases, it is inherited from one parent. In the remaining quarter of cases, neither parent has the syndrome.