drs who diagnose connective tissue disease
 

There is a chance that I may have connective tissue disease and was wondering what type of doctor could diagnose it. My uncle died of one type of connective tissue disease called marfans syndrome. Not sure who to get help from.

Sam

Hi Sam,

I think it would depend on what type of connective tissue disease your doctor thinks you may have. Often it would be a Rheumatologist but where I live there is often a team of specialists involved in the diagnosis of some conditions.

In the case of something like Marfan Syndrome there would be a team including a geneticist, orthopaedic, ophthalmologist and a cardiologist making an evaluation before confirming a diagnosis.

Hi Sam

Marfan syndrome is a genetic disorder. It is dominant, which means that if either of your parents has it then there is a 50:50 chance that you do.

If neither of your parents has it then it is unlikely but not impossible that you do - "sporadic" Marfan syndrome affects about 1 in 20000 people.