Marfan syndrome is a disease that makes its diagnosis difficult because various connective tissue disorders have similar symptoms. However, the studies that your doctor will request, once they have performed a physical examination and analyzed your symptoms and medical history, will be genetic tests and studies such as:
- Echocardiogram.
- Chest x-ray.
- MRI.
- Computed tomography.
Eye exams will also be necessary to check for the presence of cataracts, retinal detachment, glaucoma, or lens dislocation.
Although Marfan syndrome is not curable, the general treatment is to avoid complications and damage progress. For this, continuous medical check-ups and the intake of medications that help keep low blood pressure will be required to reduce any tension in the aorta.
Depending on how advanced the disease is and if your doctor deems it necessary, you may need to have surgery to replace the aortic valve or prevent a possible aorta rupture.
In the case of eye problems, they can be corrected with glasses or contact lenses, but if the retina has detached or you have cataracts, you will have to undergo surgery to correct these anomalies.
If the affectation is in the skeletal system, depending on the situation, you may require orthopedic devices, physical and rehabilitation therapies, or surgery if it is severe scoliosis or to correct sternum malformations.
At the ABC Medical Center Internal Medicine Department we offer health care services with the highest quality and safety, from prevention, diagnosis, timely treatment, and monitoring of infectious, respiratory, endocrinological, dermatological, rheumatic, nephrological, gastrointestinal, and hematological pathologies, of chronic-degenerative diseases and acute conditions, through a comprehensive and multidisciplinary model.
