Marfan syndrome is a genetic disorder that causes disorders of the connective tissue. Marfan's syndrome affects various organs, such as the body's framework, eyes, heart, blood vessels, lungs, and nervous system.
Marfan syndrome is a genetic disorder that occurs in 1 in 5,000 people worldwide. This syndrome can cause mild symptoms, but as you age, Marfan syndrome can cause adverse effects on health. Even in some cases, Marfan syndrome can cause serious complications that can be life threatening.
Causes of Marfan Syndrome
The cause of Marfan syndrome is a gene mutation that regulates the formation of connective tissue. One of the proteins that is impaired in its formation is the protein fibrillin-1. Disruption of this protein will cause disruption to the elasticity and stability of the connective tissue that is throughout the body.
Most cases of Marfan syndrome are genetic disorders that are inherited. So, when one parent experiences this syndrome, his offspring have a risk of suffering from Marfan syndrome. But in 25% of cases, Marfan syndrome results from spontaneous genetic mutations that are not affected by heredity.
What are the symptoms of Marfan syndrome
Marfan syndrome is a congenital abnormality. However, this syndrome is often only detected when entering adolescence. Some of the signs and symptoms that are often experienced by people with Marfan syndrome are:
1. Disproportionate posture
A person suffering from Marfan syndrome generally has a tall and thin body stature. Only, the arms, legs, and fingers, look disproportionate or too long for his size.
In addition, some sufferers may also have bone disorders, such as scoliosis or a curved backbone. There are even those whose breast bones do not develop properly, which are protruding outward or concave inward.
2. Teeth grow irregularly
In addition to disproportionate posture, sufferers of Marfan syndrome also have dental problems. The teeth of people with Marfan syndrome usually grow irregularly, and even tend to overlap.
3. Often experience eye disorders
People with marfan syndrome often suffer from eye disorders. If only 1 in 6 sufferers of Marfan syndrome experience lens dislocation (shifted lens) in one eye or both eyes. Some of them also suffer from nearsightedness, cataracts, and glaucoma.
4. Heart and blood vessel disorders
About 90% of sufferers of Marfan syndrome suffer from impaired heart and blood vessel function. One type of heart disorder that is often experienced is aortic dissection. This condition can cause bleeding in the walls of blood vessels which can lead to fatal and cause death.
5. Lung function that is not optimal
Marfan's syndrome can also cause the lungs to not function normally. This happens because of changes in lung tissue. In addition to dysfunction, Marfan syndrome sufferers are also more at risk of suffering from asthma, pneumonia, bronchitis, and chronic obstructive pulmonary disease (COPD).
Patients with Marfan syndrome need to regularly see a doctor. Appropriate treatment can improve the quality of life for sufferers of this syndrome, including minimizing the risk of serious complications that can be life threatening.
