The three most common structural building blocks that constitute the ‘connective tissues’ are the proteins Collagen, Fibrillin, and Elastin. They all have important functions in maintaining elasticity and strength of these tissues. In Marfan syndrome (MFS), there is not enough Fibrillin in the connective tissues.
The biology of this is more complex than it just being about the physical amount of Fibrillin present; it is also about how Fibrillin interacts with another protein called Transforming Growth Factor – Beta and how this influences normal biochemical processes in the connective tissue. When these interactions go wrong the tissues can become weak and fragile. Fibrillin is found mainly in bones, the aorta (main artery) and the eyes. Hence, these are the parts of the body most prone to complications in MFS. The clinical features of MFS vary considerably from person to person, with many people having only mild features. Everyone with MFS is born with the condition, but it may not be obvious before the teenage years (during the growth spurt). To add to the complexity some of the complications may not arise for many years, if indeed they arise at all. Every case has to be managed at an individual level.
If you click HERE you will be taken to the The Marfan Foundation website where there further information regarding Marfan syndrome.
(Review date August 2019)
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A more detailed look at the musculo skeletal aspects of Marfan syndrome
An overview of the clinical features of, and diagnostic test for Marfan syndrome,
How Marfan syndrome can affect the eyes, and what the available treatment and management options are.
An overview of how Marfan syndrome can affect the lungs.
An outline of the genetics of marfan syndrome
A more detailed look at the problems that can arise in Marfan syndrome relative to the heart and blood vessels, and their management.