Marfan's Syndrome
Created | Updated Jan 28, 2002
Described as 'An interesting genetic condition' by one Medical Dictionary, Marfan's syndrome is in fact a lot more than that.
Outwardly, sufferers are tall, thin, their arms are often 10% longer than they should be, they frequently have very short sight, they suffer from overcrowded teeth and a high, arched palate. They may be scoliolitic or kyphotic (hump-backed) and may have a pigeon or stove chest. Overall, they look pretty distinctive. They can also bend their thumbs back to touch their forearms, and their fingers back at 90 degrees, without discomfort.
So far, so what? The major problem a Marfanoid may encounter is a dissection of the aorta, which is obviously serious, and not merely 'interesting'.
Why are we like this? Thanks to a fault in chromosome 15, Fibrillin, which is a protein found in connective tissue throughout the body, is stretchier than it is in a non-Marfan's person. So, there is less tension at either end of the long bones, and so while growing, the bones just keep on, well, growing, becoming elongated. Poor connective tissue also explains the 'hypermobility' of joints.
Stretchy connective tissue also means that the aorta isn't as stong as it should be, and is prone to tearing. So a Marfan's person has to be very careful about strenuous exercise and stress, or anything that would put the heart under excessive load. They should also be regularly monitored by Echocardiogram for early signs of aneurysm or mitral valve prolapse (the valves can become floppy).
As a syndrome is a collection of symptoms, not all people who have Marfan's have all of the problems. I'm fortunate in that I have good eyesight and a healthy heart (at the moment), but I'm unlucky in that the condition is unusual enough not to have been spotted until I was 31.
It used to be the case that Marfan's people died early of heart failure, but with modern drugs (ie beta-blockers) and surgical intervention, we can now lead long lives. As long as we look after ourselves!
According to the UK Marfan's Association, as many as 1 in 5,000 people have this 'interesting' disorder- more information is available at http:/www.marfan.org.uk/.
Outwardly, sufferers are tall, thin, their arms are often 10% longer than they should be, they frequently have very short sight, they suffer from overcrowded teeth and a high, arched palate. They may be scoliolitic or kyphotic (hump-backed) and may have a pigeon or stove chest. Overall, they look pretty distinctive. They can also bend their thumbs back to touch their forearms, and their fingers back at 90 degrees, without discomfort.
So far, so what? The major problem a Marfanoid may encounter is a dissection of the aorta, which is obviously serious, and not merely 'interesting'.
Why are we like this? Thanks to a fault in chromosome 15, Fibrillin, which is a protein found in connective tissue throughout the body, is stretchier than it is in a non-Marfan's person. So, there is less tension at either end of the long bones, and so while growing, the bones just keep on, well, growing, becoming elongated. Poor connective tissue also explains the 'hypermobility' of joints.
Stretchy connective tissue also means that the aorta isn't as stong as it should be, and is prone to tearing. So a Marfan's person has to be very careful about strenuous exercise and stress, or anything that would put the heart under excessive load. They should also be regularly monitored by Echocardiogram for early signs of aneurysm or mitral valve prolapse (the valves can become floppy).
As a syndrome is a collection of symptoms, not all people who have Marfan's have all of the problems. I'm fortunate in that I have good eyesight and a healthy heart (at the moment), but I'm unlucky in that the condition is unusual enough not to have been spotted until I was 31.
It used to be the case that Marfan's people died early of heart failure, but with modern drugs (ie beta-blockers) and surgical intervention, we can now lead long lives. As long as we look after ourselves!
According to the UK Marfan's Association, as many as 1 in 5,000 people have this 'interesting' disorder- more information is available at http:/www.marfan.org.uk/.
