Marfan syndrome is a rare genetic disease that affects connective tissue. Only in Italy there are about 12,000-20,000 cases, of which 75% are hereditary. The cause of the disease is an alteration in the gene that codes for fibrillin-1, FBN1.
The disease affects in particular the heart and blood vessels, but also affects the ligaments and the skeletal system. Beyond some striking cases, Marfan's syndrome is difficult to diagnose without a genetic test. The most obvious clinical signs are:
- high height
- elongated limbs
- tapered fingers
- ectopia of the crystalline lens
- predisposition to dislocations
- alterations of the vertebral column
- lasso connective tissue
The laxity of the connective tissue has repercussions on various organs, such as heart and pomoni. In the case of the cardiovascular system, it mainly affects mitral valve and ascending aorta. For this reason, those suffering from Marfan syndrome are predisposed to aneurysm and aortic dissection.
In some cases, it is easy to confuse the symptoms with simple physical characteristics. Genetic screening is a great help in this regard and allows an accurate and fast diagnosis. Being a mainly hereditary disease in Marfan, the test is recommended for those who have family cases.
If Marfan syndrome is diagnosed, it is important that the patient is followed by a cardiologist. This will perform all the examinations necessary to identify any aortic dilatations and intervene before the break. If the dilatation is still in its infancy, it is possible to proceed with drug therapy. Otherwise surgery is necessary.