The tall and thin body structures of individuals with Marfan syndrome often attract attention. Long arms, legs and fingers are distinctive physical features that distinguish them from others. However, the effects of the syndrome are not just about physical appearance. Marfan syndrome is also associated with a variety of symptoms, including excessive flexibility in joints, chest deformities, and eye disorders.
What is Marfan syndrome?
Marfan Syndrome is a disorder that is a genetic disorder of the connective tissue. This syndrome occurs due to mutations of the fibrillin-1 protein, which affects the connective tissue in the body. Connective tissue is an important structure that provides the structural support of skin, bones, joints and most importantly blood vessels.
Which protein is Marfan syndrome?
Marfan syndrome is a genetic disorder caused by mutations in the fibrillin-1 protein. Fibrillin-1 is a component of connective tissue and provides structural support of elastic fibers. Mutations in fibrillin-1 can cause symptoms of Marfan syndrome. These mutations can affect the normal function of connective tissue and lead to abnormalities that affect various body systems.
At what age does Marfan syndrome begin?
Marfan syndrome can often be apparent from birth, but symptoms are usually noticed in childhood or adolescence. In some cases, symptoms may appear at a later age or become more pronounced over time.
What are the symptoms of Marfan syndrome?
This genetic defect in the connective tissue in people with Marfan Syndrome can cause a number of physical characteristics and potential health problems. Marfan syndrome symptoms include:
- People with Marfan syndrome are usually tall and have typical body proportions. Long arms, legs and fingers are common symptoms.
- Joint hyperflexibility, or excessive flexibility in the joint, is another symptom of Marfan syndrome.
- There may be depressions or protrusions in the rib cage.
- Eye disorders are common in people with Marfan syndrome.
- Marfan syndrome can cause serious effects on the heart and blood vessels.
How is Marfan diagnosed?
A diagnosis of Marfan syndrome is made based on a number of factors, including the patient’s medical history, physical examination, and the results of various tests. Types of Marfan syndrome tests that can be used for diagnosis include:
- Genetic testing to determine the presence and type of mutation
- Eye exam to detect eye problems
- Heart exam to detect heart problems
- family history
There are no definitive criteria for the diagnosis of Marfan syndrome. Diagnosis is usually made based on evaluation of a number of factors. The Marfan syndrome test is a blood test used to detect mutations in the FBN1 gene. This test can help make a diagnosis, but it is not enough on its own.
How is Marfan syndrome treated?
There is no definitive cure for Marfan syndrome, but it can be done with treatments to help manage symptoms and prevent complications. Treatment for Marfan syndrome varies depending on the patient’s age, severity of symptoms, and general health. Methods that can be used in the treatment of Marfan syndrome are listed as follows:
- Medications to lower blood pressure
- Medications to prevent aortic enlargement and rupture
- Surgical methods to correct spinal curvature
- Surgical procedures to repair the aortic root or aortic valve
- Physical therapy to strengthen muscles
- Glasses or laser surgery to correct eye problems
- Regular heart and eye exams
Is Marfan syndrome dangerous?
Marfan syndrome can be dangerous. It is a rare genetic disease that affects connective tissue and can affect many parts of the body, including the heart, eyes and skeletal system.
This information is for informational purposes only. If you have a medical question, it is important to consult your doctor.