Marfan Syndrome
What is the life expectancy of Marfan syndrome? Information about the causes, symptoms, and most common treatments.
Symptoms and Causes
Marfan syndrome is a disorder that affects connective tissue, which supports organs and structures in the body. It is a hereditary disease because it has a genetic component that primarily affects bones, eyes, blood vessels, and the heart.
Specifically, the FBN1 gene produces fibrillin, which is the protein that forms the elastic fiber in tissues supporting muscles, bones, and organs, as well as controlling growth. When this gene undergoes a mutation, tissues and bones develop abnormally.
Advances in research and the development of new treatments have significantly improved the life expectancy of patients with Marfan syndrome, who can now live into old age without too many complications.
Symptoms
The symptoms of Marfan syndrome are very characteristic, as they affect bone growth. Some of the most noticeable include:
- Tall and slim build
- Longer-than-usual arms, legs, and fingers
- Sunken or protruding sternum
- Flat feet
- Crowded teeth
- Curved spine
- Severe myopia
Although the above signs of the disease are very noticeable and recognizable, the one that poses the greatest health risk is invisible. Marfan syndrome weakens the tissues surrounding the aorta, which can rupture.
Causes
Marfan syndrome is caused by genetic factors and is inherited from the parents. If one of the parents has this disorder, there is a 50% chance that the children will also develop it. However, in some cases, the gene mutation occurs spontaneously.
Risk Factors
The main risk factor for Marfan syndrome is if one of the parents has this mutation in the fibrillin gene.
Complications
The primary complications affecting the cardiovascular system are related to aortic deterioration. When an aneurysm occurs in this artery, a bulge forms in the area where it exits the heart. If an aortic dissection occurs, the walls of this vessel tear, blood leaks out, and causes intense pain.
Marfan syndrome also affects the eyes and can lead to problems with the retina, alter the focal point, or cause cataracts at an early age.
Prevention
Marfan syndrome cannot be prevented. To improve the quality of life, medical recommendations should be followed, and regular check-ups should be attended.
Which doctor treats Marfan syndrome?
Cardiologists and cardiothoracic surgeons are the specialists best suited to treat Marfan syndrome. Additionally, because the disease is complex and has a hereditary component, geneticists are involved in the diagnosis along with ophthalmologists, pediatricians, and general practitioners.
Diagnosis
Diagnosing Marfan syndrome is not easy, as it shares symptoms with other connective tissue diseases. Therefore, several tests are needed to confirm it. Some of the most commonly used tests include:
- Genetic analysis when there is a family history.
- Echocardiogram or MRI to check the condition of the heart and aorta.
- Ocular exam with a slit lamp to check for cataracts, lens dislocation, or retinal detachment.
- Tonometry to detect or rule out glaucoma.
Treatment
Currently, there is no treatment for Marfan syndrome. However, life expectancy has significantly increased thanks to medical advances that allow controlling blood pressure with medications and repairing aortic damage through surgery.
