Marfan's syndrome

Marfan's syndrome

A rare AUTOSOMAL DOMINANT genetic disorder involving weakness of the extracellular matrix protein fibrillin 1. The disease is caused by a gene mutation in the FIBRILLIN gene on chromosome 15. Many features of the disease are caused by altered regulation of transforming growth factor beta (TGFB). People with Marfan's syndrome are tall with long extremities and strikingly spider-like fingers (ARACHNODACTYLY). Their joints are unusually mobile and dislocate easily and the internal lenses of the eyes commonly become displaced. The main artery of the body (the AORTA) is abnormally floppy and prone to aneurysm, and heart disease commonly occurs. (Antonin Bernard Jean Marfan, 1858–1942, French physician).

Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

Patient discussion about Marfan's syndrome

Q. A friend of mine is suffering from Marfan's syndrome. Should she do any test to check for an aneurysm? My friend is 26 years old and suffers from Marfan's syndrome for all her life. She was told she has a greater risk factor for having an aneurysm. Does she needs any screening for this condition?

A. It is very important to talk with your physician about this. My wife has marfan and we were not aware about the risk of pregnancy in this situation, and she developed an aneurysm. The regular screening is not enough and before life changing decisions you should do another screening.

Q. My neighbor's kid had a lens dislocation due to Marfan's disease. Is this a contagious thing? My neighbor's have a sweet 8 year old boy. he had a lens dislocation due to a connective tissue disease named Marfan (I think that the name). It sounds like a very serious condition. My boy is playing with this kid several hour a week. should I take him to the GP to see that his is not infected with this marfan thing?

A. As in love and war so is in medicine the is no always nor never. It is probably the marfan that caused your neighbor kid the lens dislocation but you can never know for sure.
If you want there is nothing wrong in taking your boy for an annual check of an ophthalmologist.

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