Marfan Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Definition
Marfan syndrome is a genetic disease that attacks the connective tissue. This syndrome is inherited as an autosomal dominant, with a disturbance in the FBN1 gene, on chromosome 15 as the cause. This disorder causes interference with the connective tissue.
Connective tissue in the body functions to provide tissue durability, cartilage, and tendon elasticity. Therefore, connective tissue is found in many organs. Disorders of the connective tissue can also cause disturbances in various organs. Those with this syndrome usually have tall bodies, are prone to spinal disorders (scoliosis), and have flexible joints.
Marfan Syndrome Symptoms
People with Marfan syndrome can show various symptoms, such as:
- High posture
- The shape of the chest that protrudes outward or inward
- Spinal disorders
- Disorders of teeth growth
- Sunken eyes
- Bigfoot shape
- Weak joints
- Shift of the eye lens
- Heart valve disorders.
Marfan Syndrome Reason
The cause of Marfan syndrome is related to a genetic problem in which there is a disturbance in the FBN1 gene, on chromosome 15. This chromosome actually functions to attach the protein code to the fibrillin connective tissue.
Abnormalities in the nature of this protein cause connective tissue disorders that are found in many organs. Therefore, sufferers of Marfan syndrome will experience various problems such as disorders of the musculoskeletal system, heart and eyes.
Marfan Syndrome Diagnosis
Determining the diagnosis of Marfan syndrome can be done by obtaining medical information and direct physical examination. The medical interview found a family history of this syndrome.
Sufferers can complain about various disorders – such as eye, heart and lung problems. Sufferers may also complain of visual disturbances, spinal disorders, and abnormal chest shape.
On physical examination, several physical abnormalities can be found such as the shape of long fingers, disorders of the shape of the chest cavity such as pectus carinatum (chest wall leaning out), spinal disorders such as scoliosis, and heart valve disorders. Examination of spinal photos and echocardiography needs to be done to see the degree of abnormality that occurs. To support the diagnosis of Marfan syndrome, a genetic examination can also be carried out.
Marfan Syndrome Treatment
There are no healing techniques for Marfan syndrome. But thanks to proper treatment, life expectancy has increased in recent decades. Periodic checks by a cardiologist are needed to see if there are heart valve and aortic valve disorders.
Patients with heart problems can be given various treatments. For example, beta blocker drugs such as propranolol, and ACE-blocking drugs. However, if the blood vessel or heart valve disorders are severe, then surgery can be considered.
In cases of spinal disorders, problems can be treated by installing a special corset. While in cases of severe spinal growth, surgery can also be considered.
Prevention
There is no prevention for the occurrence of Marfan syndrome. It’s just that, to prevent the occurrence of more severe injuries or disorders, sufferers of Marfan syndrome are advised to avoid high-risk activities.
Activities such as lifting weights, contact sports, surfing or diving are some activities that should be avoided or strictly controlled. It’s better to consult a doctor to find the right type of exercise to do.